Genomics for Life Pty Ltd

Site

Genomics for Life Pty Ltd

Accreditation No.

19325

Site No.

22042

Date of Accreditation

07 Sep 2014

Address

Unit 1, 11 Parkview Street
Milton, QLD 4064
Australia

Contact

Ms Sandra Stein P: +61 (07) 30544377

Availability

Services available to external clients

Supervision

GX (General)

Scope of Accreditation

ISO 15189 (2012)

Human Pathology

Medicare expiry date

03 Oct 2022

Last Activity Date

15 Oct 2020

Service Product Determinant
Anatomical pathology - Tissue pathology - Examination of biopsy material Formalin fixed tissue Review and reporting of biopsy material to identify or exclude morphological abnormalities
Microbiology - Molecular biology - Detection, characterisation and/or quantitation of microbial nucleic acids (viruses) Nasopharyngeal swabs; Throat swabs Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Fluids; Formalin fixed paraffin embedded tissue sections; Hair; Muscle; Oral fluid; Plasma; Products of conception (POC); Saliva; Serum; Tissues 5α-Reductase; ABC transporters; Acute myeloid leukaemia RUNX1; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Bilirubin-UGT enzyme; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; Cytochrome P450 pharmacogenomic studies; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl conenzyme A dehydrogenase (LHCAD); Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for known variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Red cell antigen genotyping; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Uniparental disomy; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted panels for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Muscle; Oral fluid; Plasma; Products of conception (POC); Saliva; Serum 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; Cytochrome P450 pharmacogenomic studies; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl conenzyme A dehydrogenase (LHCAD); Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for known variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Red cell antigen genotyping; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Uniparental disomy; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Dried blood spots; Formalin fixed paraffin embedded tissue sections; Hair; Muscle; Oral fluid; Plasma; Products of conception (POC); Purified DNA; Saliva; Serum 5α-Reductase; Acute myeloid leukaemia RUNX1; Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Breast cancer; Bruton's; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; Cytochrome P450 pharmacogenomic studies; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gilberts disease; Glutaric acidemia; Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Noonan syndrome; Nucleic acid analysis for known variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Primary cilary dyskenesis; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Red cell antigen genotyping; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rippling muscle disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Shwachman-Diamond syndrome; Skeletal dysplasia; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Uniparental disomy; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Detection and characterisation of cell free RNA (cfRNA) /cell free DNA (cfDNA)  in cancer screening Blood; FFPA; Formalin fixed paraffin embedded tissue sections; Plasma Nucleic acid analysis for specific variants
Molecular genetics - Estimation of risk of inheritance of an unknown mutation (Bayesian and linkage calculations) Amniotic fluid; Blood; Chorionic villus Angelman syndrome; Cystic fibrosis; Estimation of risk; Halotype linkage analysis; Hereditary non-syndromic deafness; Maternal cell contamination; Prader-Willi syndrome; Spinal muscular atrophy; Uniparental disomy
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted genes Aspirates; Blood; Bone marrow; Cerebrospinal fluid (CSF); Dried blood spots; Fluids; Formalin fixed paraffin embedded tissue sections; Fresh tissue; Plasma; Serum; Sputum; Tissues Ashkenazi Jewish; Blood borne tumours; CSF3R and SETBP1 mutation test; Calreticulin; Chronic myeloid leukaemia (CML); Collagen type 2; Copy number variation (CNV); Cystic fibrosis; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Essential thrombocythemia (ET); Ewings sarcoma; Facioscapulohumeral muscular dystrophy; Glioblastoma; Haemopoietic chimerism post allogenic BMTx; Hereditary non-syndromic deafness; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Laminopathies; Leigh syndrome; Leukaemic gene rearrangements; MGMT promoter methylation analysis; MLH1 promoter methylation analysis; Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Multiple endocrine neoplasia type 1 (MEN1); Myeloproliferative disorders; Nucleic acid analysis for known variants; Nucleic acid analysis for specific variants; Polycythaemia vera; Primary myelofibrosis; Qualitative calculation of p190 positive BCR/ABL1 transcripts; Quantitation of donor and recipient bone marrow derived cells in a transplant recipient; Quantitative calculation of p190 positive BCR/ABL1; Quantitative calculation of p210 positive BCR/ABL1 transcripts; Single gene analysis for melanoma of non-small cell lung cancer; Solid tumours; Somatic mutation detection; Spinal muscular atrophy; Spinocerebellar ataxia; Synovial sarcoma; Thrombophilia
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Targeted panels for non-inherited (somatic) DNA/RNA changes Aspirates; Blood; Bone marrow; Buccal swabs; Dried blood spots; Fluids; Formalin fixed paraffin embedded tissue sections; Fresh tissue; Plasma; Serum; Sputum; Tissues Ashkenazi Jewish; Blood borne tumours; CSF3R and SETBP1 mutation test; Chronic myeloid leukaemia (CML); Collagen type 2; Copy number variation (CNV); Cystic fibrosis; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Essential thrombocythemia (ET); Ewings sarcoma; Facioscapulohumeral muscular dystrophy; Glioblastoma; Hereditary non-syndromic deafness; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Laminopathies; Leigh syndrome; Leukaemic gene rearrangements; MGMT promoter methylation analysis; MLH1 promoter methylation analysis; Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Myeloproliferative disorders; Nucleic acid analysis for known variants; Nucleic acid analysis for specific variants; Polycythaemia vera; Primary myelofibrosis; Quantitation of donor and recipient bone marrow derived cells in a transplant recipient; Quantitative calculation of p210 positive BCR/ABL1 transcripts; Solid tumours; Spinal muscular atrophy; Spinocerebellar ataxia; Synovial sarcoma; Thrombophilia
Molecular genetics - Genetic testing for chimerism and mosaic gene variants (cancer and somatic mosaicism) - Whole exome sequencing for non-inherited (somatic) DNA/RNA changes Aspirates; Blood; Bone marrow; Buccal swabs; Dried blood spots; Fluids; Formalin fixed paraffin embedded tissue sections; Plasma; Serum; Sputum; Tissues Ashkenazi Jewish; Blood borne tumours; CSF3R and SETBP1 mutation test; Chronic myeloid leukaemia (CML); Collagen type 2; Copy number variation (CNV); Cystic fibrosis; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Essential thrombocythemia (ET); Ewings sarcoma; Facioscapulohumeral muscular dystrophy; Glioblastoma; Hereditary non-syndromic deafness; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Laminopathies; Leigh syndrome; Leukaemic gene rearrangements; MGMT promoter methylation analysis; MLH1 promoter methylation analysis; Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Myeloproliferative disorders; Nucleic acid analysis for known variants; Nucleic acid analysis for specific variants; Polycythaemia vera; Primary myelofibrosis; Quantitation of donor and recipient bone marrow derived cells in a transplant recipient; Quantitative calculation of p210 positive BCR/ABL1 transcripts; Solid tumours; Spinal muscular atrophy; Spinocerebellar ataxia; Synovial sarcoma; Thrombophilia
Molecular genetics - Heterozygous loci determinations Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Extracted DNA; Fluids; Muscle; Oral fluid; Products of conception (POC); Saliva; Tissues Adrenoleukodystrophy (ALD); Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Blood borne tumours; Calreticulin; Calsequestrin-like protein; Canavan disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Classic infantile diseases - CLN1, CLN2, CLN3; Collagen type 2; Congenital disorder of glycosylation type 1a; Congruence between two samples - Bone marrow engraftment, maternal cell contamination and identity testing; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness panel; Duchenne-Becker muscular dystrophy; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl conenzyme A dehydrogenase (LHCAD); Lynch syndrome; Macrocephaly PTEN gene mutation; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwannomatosis; Severe combined immunodeficiency disease (SCID); Smith-Lemli-Opitz syndrome; TWIK related spinal cord potassium (TRESK); Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 18; Trisomy 21; Variants in the nuclear genome; Von Willebrand disorder; X-linked adrenoleukodystrophy; Zellweger
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted genes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Formalin fixed paraffin embedded tissue sections; Hair; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Saliva; Skin fibroblasts; Tissues; Urine 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Bloom syndrome; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Deafness panel; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial dysautonomia; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis IV; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycyclics/alicyclics; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Targeted panels for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Formalin fixed paraffin embedded tissue sections; Hair; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Saliva; Skin fibroblasts; Tissues; Urine 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Bloom syndrome; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial dysautonomia; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis IV; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilms tumour; Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Leucocytes (leukocytes); Muscle; Products of conception (POC); Saliva; Skin fibroblasts; Tissues 5α-Reductase; Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Ataxia telangiectasia (Louis Bar syndrome); Azospermia; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Bloom syndrome; Breast cancer; Bruton's; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Familial British dementia; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial dysautonomia; Familial hypercholesterolemia; Fanconi anaemia; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Hereditary colorectal cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Malignant hyperthermia; Marfan syndrome; McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis IV; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Prader-Willi syndrome; Premature ovarian failure; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; Tauopathies; Thiopurine methyltransferase (TPMT); Trisomy 15; Trisomy 16; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted genes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Hair; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Saliva; Skin fibroblasts; Tissues; Urine 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Bloom syndrome; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial dysautonomia; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis IV; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Purified DNA; Saliva; Skin fibroblasts; Tissues 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Bloom syndrome; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial dysautonomia; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis IV; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Investigation of constitutional genetic variants - Diagnostic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Extracted DNA; Leucocytes (leukocytes); Muscle; Oral fluid; Products of conception (POC); Purified DNA; Saliva; Skin fibroblasts; Tissues 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Bloom syndrome; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial dysautonomia; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis IV; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic abnormalities - Diagnostic testing Amniotic fluid; Blood; Chorionic villus; Dried blood spots; Hair; Liver; Muscle; Products of conception (POC); Saliva; Tissues; Urine Mitochondrial DNA analysis for specific or unknown variants
Molecular genetics - Mitochondrial investigation for heteroplasmy of constitutional genetic variants - Carrier testing Amniotic fluid; Blood; Chorionic villus; Dried blood spots; Hair; Liver; Muscle; Products of conception (POC); Saliva; Urine Mitochondrial DNA analysis for specific or known variants
Molecular genetics - Non-invasive prenatal (genetic) screening Maternal blood; Maternal plasma Aneuploidy for chromosomes X and Y; Chromosome copy number analysis; Jacobs syndrome (XYY); Kleinfelters syndrome (XXY); Rare autosome aneuploidy and segmental genomic imbalances; Trisomy 13, trisomy 18, trisomy 21; Trisomy X; Turners syndrome (SCA:XO)
Molecular genetics - Pre-implantation genetic testing Biopsied embryonic cell(s) - Blastomere/trophectoderm; Blastomere; Blood; Cells from embryo biopsy; Trophectoderm; Whole blood Aneuploidy; Aneuploidy screening of amplified trophectoderm/blastomere DNA; Cardiac disorders; Chromosome copy number analysis; Karyomapping for known single gene disorders; Nucleic acid analysis for specific variants; PCR-Short tandem repeat (STR) linkage analysis; Translocation; Wilsons disease
Molecular genetics - Predictive genetic testing - Targeted genes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Chorionic villus tissue; Dried blood spots; Formalin fixed paraffin embedded tissue sections; Hair; Muscle; Nerve biopsy; Oral fluid; Products of conception (POC); Purified DNA; Saliva; Tissues; Urinary sediment 5α-Reductase; Acute myeloid leukaemia RUNX1; Adrenoleukodystrophy (ALD); Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Breast cancer; Bruton's; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited colorectal cancer; Inherited disorders; Inherited solid tumours; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mowat-Wilson syndrome; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Niemann-Pick disease; Noonan syndrome; Nucleic acid analysis for known variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Prader-Willi syndrome; Primary cilary dyskenesis; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Trisomy 15; Trisomy 16; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Predictive genetic testing - Targeted panels for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Hair; Muscle; Nerve biopsy; Oral fluid; Products of conception (POC); Purified DNA; Saliva; Tissues; Urinary sediment 5α-Reductase; Acute myeloid leukaemia RUNX1; Adrenoleukodystrophy (ALD); Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Breast cancer; Bruton's; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited colorectal cancer; Inherited disorders; Inherited solid tumours; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mowat-Wilson syndrome; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Niemann-Pick disease; Noonan syndrome; Nucleic acid analysis for known variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Prader-Willi syndrome; Primary cilary dyskenesis; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Trisomy 15; Trisomy 16; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Predictive genetic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Dried blood spots; Hair; Muscle; Nerve biopsy; Oral fluid; Products of conception (POC); Purified DNA; Saliva; Tissues; Urinary sediment 5α-Reductase; Acute myeloid leukaemia RUNX1; Adrenoleukodystrophy (ALD); Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Breast cancer; Bruton's; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited colorectal cancer; Inherited disorders; Inherited solid tumours; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mowat-Wilson syndrome; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Niemann-Pick disease; Noonan syndrome; Nucleic acid analysis for known variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Prader-Willi syndrome; Primary cilary dyskenesis; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Trisomy 15; Trisomy 16; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Predictive mitochondrial genetic testing Amniotic fluid; Blood; Chorionic villus; Dried blood spots; Hair; Muscle; Products of conception (POC); Saliva; Urine Mitochondrial DNA analysis for specific or known variants
Molecular genetics - Prenatal genetic testing (excluding non-invasive prenatal [genetic] screening) Amniotic fluid; Blood; Chorionic villus; Products of conception (POC); Saliva 5α-Reductase; Adrenoleukodystrophy (ALD); Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Ataxia telangiectasia (Louis Bar syndrome); Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Breast cancer; Bruton's; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Chromosome copy number analysis; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Familial British dementia; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia; Haemophilia A; Hereditary colorectal cancer; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Huntington's disease prenatal chromosome exclusion test; Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Inclusion body myopathy; Incontinentia pigmenti; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Malignant hyperthermia; Marfan syndrome; McArdle disease; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mowat-Wilson syndrome; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Niemann-Pick disease; Noonan syndrome; Oculopharyngeal muscular dystrophy; Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Prader-Willi syndrome; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Rapid-onset dystonia-parkinsonism; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Scoline apnoea (suxamethonium apnoea); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; Tauopathies; Thalassaemia; Thiopurine methyltransferase (TPMT); Trisomy 13, trisomy 18, trisomy 21; Trisomy 15; Trisomy 16; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X and Y chromosome; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Screening for an unknown mutation - Targeted panels for non-inherited (somatic) DNA/RNA changes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Dried blood spots; Formalin fixed paraffin embedded tissue sections; Fresh tissue; Hair; Muscle; Nerve biopsy; Products of conception (POC); Saliva; Urinary sediment Angelman syndrome; Blood borne tumours; Canavan disease; Classic infantile diseases - CLN1, CLN2, CLN3; Collagen type 2; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Familial Mediterranean fever; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; MGMT promoter methylation analysis; MLH1 promoter methylation analysis; Mastocytosis; Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Niemann-Pick disease; Nucleic acid analysis for unknown variants; Prader-Willi syndrome; Prelingual deafness; Quantitative calculation of p210 positive BCR/ABL1 transcripts; Roche 1K disease; Smith-Lemli-Opitz syndrome; Solid tumours; Spinal muscular atrophy; Spinocerebellar ataxia; Uniparental disomy; VI
Molecular genetics - Screening for an unknown mutation - Microarray analysis for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Chorionic villus; Dried blood spots; Hair; Muscle; Oral fluid; Products of conception (POC); Purified DNA; Saliva; Urine 5α-Reductase; Acute myeloid leukaemia RUNX1; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Uniparental disomy; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Screening for an unknown mutation - Targeted genes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Dried blood spots; Fluids; Formalin fixed paraffin embedded tissue sections; Hair; Muscle; Nerve biopsy; Oral fluid; Plasma; Products of conception (POC); Purified DNA; Saliva; Tissues; Urinary sediment; Urine 3-Methylcrotonyl-coenzyme A carboxylase deficiency; 5α-Reductase; Acute myeloid leukaemia RUNX1; Adenosine deaminase severe combined immunodeficiency (ADA-SCID); Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Arginase deficiency (hyperargininemia); Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Biotinidase deficiency; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Citrullinemia type I; Classic infantile diseases - CLN1, CLN2, CLN3; Classic juvenile neuronal ceroid lipofuscinoses; Classic late infantile neuronal ceroid lipofuscinoses; Classical homocystinuria; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; Cystinosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Dicarboxylic aminoaciduria; Distal arthrogryposis; Dravet syndrome (severe myoclonic epilepsy in infancy); Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial Wolff-Parkinson-White syndrome; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hemiplegic migraine; Familial hemophagocytic lymphohistiocytosis; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; GM1 gangliosidosis and MPS IVB; Galactosemia; Galactosemia type 1; Galactosemia type 2; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glucokinase deficiency; Glutaric acidemia; Glutaric acidemia type 2; Glycine encephalopathy; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hartnup disease; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary fructose intolerance; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Holocarboxylase synthetase deficiency; Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; IL7-R severe combined immunodeficiency (IL7-R-SCID); Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Infantile neuronal ceroid lipofuscinoses; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Isovaleric acidemia; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Maple syrup urine disease; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Methylmalonic acidemia; Methylmalonic acidemia with homocystinuria; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucolipidosis II and IIIA; Mucopolysaccharidosis I; Mucopolysaccharidosis II (Hunter syndrome); Mucopolysaccharidosis IIIA; Mucopolysaccharidosis IIIB; Mucopolysaccharidosis IVA; Mucopolysaccharidosis VI; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type A and B; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; Ornithine transcarbamylase deficiency; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Phenylalanine hydroxylase deficiency (PKU); Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary carnitine deficiency (carnitine transport deficiency); Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Sandhoff disease; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Solid tumours; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Tyrosinemia type I; Uniparental disomy; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenal hypoplasia congenita; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; X-linked severe combined immunodeficiency (X-SCID); Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Screening for an unknown mutation - Targeted panels for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Fresh tissue; Muscle; Nerve biopsy; Products of conception (POC); Saliva; Urinary sediment 5α-Reductase; Acute myeloid leukaemia RUNX1; Alexander disease; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Fabry disease; Facioscapulohumeral muscular dystrophy; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hypercholesterolemia; Fanconi anaemia; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency; Medullary thyroid cancer (RET gene mutation); Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Niemann-Pick disease; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Rapid-onset dystonia-parkinsonism; Renal clear cell carcinoma; Retinoblastoma; Rett syndrome; Rippling muscle disease; Roche 1K disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Trisomy 15; Trisomy 16; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia
Molecular genetics - Screening for an unknown mutation - Whole exome sequencing for non-inherited (somatic) DNA/RNA changes Amniotic fluid; Blood; Bone marrow; Buccal swabs; Chorionic villus; Formalin fixed paraffin embedded tissue sections; Fresh tissue; Hair; Muscle; Nerve biopsy; Products of conception (POC); Saliva; Urinary sediment Blood borne tumours; Collagen type 2; Cystic fibrosis; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); Dried blood spot; Duchenne-Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; Facioscapulohumeral muscular dystrophy; Hereditary non-syndromic deafness; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Laminopathies; Leigh syndrome; MGMT promoter methylation analysis; MLH1 promoter methylation analysis; Microsatellite instability analysis; Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Multiple endocrine neoplasia type 1 (MEN1); Nucleic acid analysis for unknown variants; Quantitative calculation of p210 positive BCR/ABL1 transcripts; Solid tumours; Spinal muscular atrophy; Spinocerebellar ataxia
Molecular genetics - Screening for an unknown mutation - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Amniotic fluid; Blood; Buccal swabs; Chorionic villus; Extracted DNA; Formalin fixed paraffin embedded tissue sections; Hair; Muscle; Nerve biopsy; Oral fluid; Products of conception (POC); Saliva; Urinary sediment Egg drop syndrome virus; 5α-Reductase; Acute myeloid leukaemia RUNX1; Adrenoleukodystrophy (ALD); Alexander disease; Alpers syndrome; Aminoglycoside hearing loss; Androgen receptor; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Ataxia telangiectasia (Louis Bar syndrome); Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Beckwith-Wiedemann syndrome; Birt-Hogg-Dubé syndrome; Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); Blood borne tumours; Breast cancer; Bruton's; Calreticulin; Calsequestrin-like protein; Canavan disease; Carbamoyl-phosphate synthetase 1 deficiency; Central core disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Cerebral cavernous malformation; Charcot-Marie-Tooth neuropathy; Citrullinemia; Classic infantile diseases - CLN1, CLN2, CLN3; Coeliac disease; Collagen type 2; Congenital adrenal hyperplasia; Congenital disorder of glycosylation type 1a; Copy number variation (CNV); Cowden syndrome (multiple hamartoma syndrome); Craniosynostosis; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Deafness; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); DiGeorge syndrome; Distal arthrogryposis; Duchenne-Becker muscular dystrophy; Duncan's disease; Dystonia; Emberger syndrome; Emery-Dreifuss muscular dystrophy; Epilepsy; Episodic ataxia type 2 (EA2); Fabry disease; Facioscapulohumeral muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial British dementia; Familial Mediterranean fever; Familial adenomatous polyposis; Familial cerebral angiopathy hereditary cerebral haemorrhage with amyloidosis Dutch type (HCHWA-D); Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Fukutin-related protein (FKRP) related muscle diseases; Galactosemia; Gastrointestinal stroma tumour; Gaucher disease; Gilberts disease; Glutaric acidemia; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia A; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary colorectal cancer; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary neuropathy with liability to pressure palsies; Hereditary non-syndromic deafness; Hereditary pancreatitis; Hereditary spastic paraplegia; Hexosaminidase A deficiency (Tay Sachs disease); Hyper IgM; Hyperparathyroidism-2; Hypokalemic periodic paralysis; Immunodeficiency; Inclusion body myopathy; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited disorders; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Krabbe disease; Laminopathies; Leber hereditary optic neuropathy; Legius syndrome; Leigh syndrome; Li-Fraumeni syndrome; Liang distal myopathy; Limb-girdle muscular dystrophy type 1A; Lissencephaly; Long QT syndrome (LQTS); Long chain 3-hydroxyacyl conenzyme A dehydrogenase (LHCAD); Lymphedema-distichiasis syndrome; Lynch syndrome; Macrocephaly PTEN gene mutation; Malignant hyperthermia; Marfan syndrome; Maternally-inherited Leigh syndrome; Maturity onset diabetes of the young (MODY); McArdle disease; Medical exome; Medium chain acyl-coenzyme A dehydrogenase (MCAD); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Metachromatic leukodystrophy (MLD, arylsulfatase A deficiency); Methylenetetrahydrofolate reductase (MTHFR); Mitochondrial disorders - Mito, MELAS, MERRF, mtDNA, POLG, Alpers, Leigh disease (LHON), NARP, Kearns-Sayre, MIRAS, CPEO; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome); Miyoshi myopathy; Motor neurone disease; Mucopolysaccharidosis diseases - MPS I, MPS II, MPS IIIA, IIIB, IVA, VI; Multiple endocrine neoplasia; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Myeloproliferative neoplasms; Myoclonic epilepsy associated with ragged red fibres; Myofibrillar myopathy; Myotonia congenita (Becker disease, Thomsen disease); Nance-Horan syndrome (NHS); Nemaline myopathy; Neurofibromatosis; Neurogenic ataxia with retinitis pigmentosa; Neuromuscular disorders; Neuronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Noonan syndrome; Nucleic acid analysis for unknown variants; Oculopharyngeal muscular dystrophy; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Paragangliomas; Paramyotonia congenita; Peutz-Jeghers syndrome; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Premature ovarian failure; Primary cilary dyskenesis; Primary immune deficiency disease; Prion disease (transmissible spongiform encephalopathies); Progressive external ophthalmoplegia; Prothrombin variant; Rapid-onset dystonia-parkinsonism; Rare undiagnosed disease; Renal clear cell carcinoma; Retinal dystrophy; Retinoblastoma; Rett syndrome; Rhizomelic chondrodysplasia punctata; Rippling muscle disease; Saethre-Chotzen syndrome; Schwannomatosis; Scoline apnoea (suxamethonium apnoea); Severe combined immunodeficiency disease (SCID); Shwachman-Diamond syndrome; Skeletal dysplasia; Smith-Lemli-Opitz syndrome; Sotos syndrome; Spinal muscular atrophy; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK); Tauopathies; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 15; Trisomy 16; Trisomy 18; Trisomy 21; Trisomy 22; Trisomy X; Trisomy Y; Tuberous sclerosis; Variants in the nuclear genome; Veno-occlusive disease with immunodeficiency; Von Hippel Lindau disease; Von Willebrand disorder; Williams syndrome (Williams-Beuren syndrome); Wilsons disease; X-linked adrenoleukodystrophy; X-linked mental retardation; X-linked myotubular myopathy; Y chromosome microdeletion; Zellweger; α-Thalassaemia; α1-Antitrypsin; β-Thalassaemia

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