The Garvan Institute of Medical Research

Site

Kinghorn Centre for Clinical Genomics Sequencing Laboratory

Accreditation No.

19887

Site No.

23252

Date of Accreditation

12 Jul 2016

Address

370 Victoria Street
Darlinghurst, NSW 2010
Australia

garvan.org.au/research/kinghorn-centre-for-clinical-genomics/sequencing-services

Contact

Mr Garry Chadbond P: +61 (02) 93555816

Availability

Services conditionally available to external clients

Supervision

Not Applicable

Scope of Accreditation

ISO 15189 (2012)

Human Pathology

Service Product Determinant
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; 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 - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted panels for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; 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 - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Blood; Oral fluid; Purified DNA Alpers syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for known variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Phaeochromocytoma; Polycythaemia; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwannomatosis; 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 - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Whole genome sequencing studies for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; 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 - Bioinformatic analysis DNA sequences Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling
Molecular genetics - DNA extraction Formalin fixed paraffin embedded tissue sections; OraCollect DNA storage for future analyses; Purified PCR product; Viable DNA; Viable DNA for sequencing
Molecular genetics - DNA fragment size analysis Blood; Oral fluid; Purified DNA Copy number variation (CNV)
Molecular genetics - DNA sequencing Blood; Buccal swabs; Extracted DNA; Oral fluid DNA sequence analysis; DNA sequencing reaction purification step; Sequenced DNA; Sequenced DNA utilising massively parallel sequencing technologies
Molecular genetics - Heterozygous loci determinations Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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 Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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 panels for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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 - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Phaeochromocytoma; Polycythaemia; 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; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 18; Trisomy 21; Von Willebrand disorder; X-linked adrenoleukodystrophy; Zellweger
Molecular genetics - Investigation of constitutional genetic variants - Carrier testing - Whole genome sequencing studies for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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 - Diagnostic testing - Targeted genes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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 - Diagnostic testing - Targeted panels for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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; 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 - Diagnostic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Blood; Oral fluid; Purified DNA Alpers syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Phaeochromocytoma; Polycythaemia; 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 - Diagnostic testing - Whole genome sequencing studies for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl conenzyme A dehydrogenase (LHCAD); Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown 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; Von Willebrand disorder; X-linked adrenoleukodystrophy; Zellweger
Molecular genetics - RNA extraction Formalin fixed paraffin embedded tissue sections Viable RNA for sequencing
Molecular genetics - RNA sequencing Extracted RNA Sequenced RNA utilising massively parallel sequencing technologies
Molecular genetics - Screening for an unknown mutation - Targeted genes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hemophagocytic lymphohistiocytosis; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown 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 - Screening for an unknown mutation - Targeted panels for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Fluids Von Hippel Lindau disease
Molecular genetics - Screening for an unknown mutation - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; Calreticulin; Calsequestrin-like protein; 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; Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Phaeochromocytoma; Polycythaemia; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; Rare undiagnosed disease; Retinal dystrophy; Rett syndrome; 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 - Screening for an unknown mutation - Whole genome sequencing studies for inherited (germline) DNA/RNA changes Blood; Extracted DNA; Oral fluid Alpers syndrome; Angelman syndrome; Apolipoprotein E genotyping; Ashkenazi Jewish; Autoimmune polyendocrinopathy syndrome type 1; Azospermia; Bannayan-Riley-Ruvalcaba syndrome; 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; Copy number variation (CNV); Cystic fibrosis; D-bifunctional protein (DBP) deficiency; Dentatorubral-pallidoluysian atrophy (Naito-Oyanagi disease); 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 XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Fanconi anaemia; Founder mutations; Friedreich's ataxia (FRDA, FA); 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; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; 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) deficiency; 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; Myotonic dystrophy; Nance-Horan syndrome (NHS); Neuronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown 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; Von Willebrand disorder; X-linked adrenoleukodystrophy; Zellweger

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