National Association of Testing Authorities, Australia
Scope of Accreditation
Australian Clinical Labs
Site
Genome.One
Accreditation No.
3427
Site No.
24662
Date of Accreditation
Contact
Ms Nicole Schonrock
P: +61 0406883981
Availability
Services available to external clients
Supervision
GY (General)
Scope of Accreditation
Withdrawn
Genome.One
ISO 15189 (2012)
Human Pathology
Medicare expiry date
14 Sep 2020
Last Activity Date
04 Jun 2019
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| 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; Factor V Leiden; Factor XIII 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 cancer 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); 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; Factor V Leiden; Factor XIII 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 cancer 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); 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; Factor V Leiden; Factor XIII 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 cancer 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); 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; 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; Factor V Leiden; Factor XIII 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 cancer 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); 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 | Tertiary analysis - Data annotation and interpretation |
| Molecular genetics - DNA fragment size analysis | Blood; Oral fluid; Purified DNA | Copy number variation (CNV) |
| Molecular genetics - DNA sequencing | Blood; Extracted DNA; Oral fluid | DNA sequence analysis |
| 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; 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 cancer 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); 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; Factor V Leiden; Factor XIII 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 cancer 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; Factor V Leiden; Factor XIII 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 cancer 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; 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 cancer 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; Factor V Leiden; Factor XIII 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 cancer 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; Factor V Leiden; Factor XIII 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 cancer 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; Factor V Leiden; Factor XIII 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 cancer 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; Factor V Leiden; Factor XIII 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 cancer 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; Factor V Leiden; Factor XIII 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 cancer 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); 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 - Predictive genetic testing - Targeted genes | Blood; Oral fluid; Purified DNA | Ashkenazi Jewish; Azospermia; Copy number variation (CNV); Duchenne-Becker muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial adenomatous polyposis; Familial hypercholesterolemia; Founder mutations; Haemochromatosis; Haemophilia B; Haemophilia C; Hereditary breast and ovarian cancer syndrome; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Juvenile polyposis; Lynch syndrome; Macrocephaly PTEN gene mutation; Maturity onset diabetes of the young (MODY); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Nucleic acid analysis for specific variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Polycystic kidney disease; Prothrombin variant; Retinal dystrophy; Schwannomatosis; Thrombophilia; Variants in the nuclear genome; Von Willebrand disorder |
| Molecular genetics - Predictive genetic testing - Targeted panels for inherited (germline) DNA/RNA changes | Blood; Oral fluid; Purified DNA | Ashkenazi Jewish; Azospermia; Copy number variation (CNV); Duchenne-Becker muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial adenomatous polyposis; Familial hypercholesterolemia; Founder mutations; Haemochromatosis; Haemophilia B; Haemophilia C; Hereditary breast and ovarian cancer syndrome; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Juvenile polyposis; Lynch syndrome; Macrocephaly PTEN gene mutation; Maturity onset diabetes of the young (MODY); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Nucleic acid analysis for specific variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Polycystic kidney disease; Prothrombin variant; Retinal dystrophy; Schwannomatosis; Thrombophilia; Variants in the nuclear genome; Von Willebrand disorder |
| Molecular genetics - Predictive genetic testing - Whole exome sequencing studies for inherited (germline) DNA/RNA changes | Blood; Oral fluid; Purified DNA | Adrenoleukodystrophy (ALD); 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; Factor V Leiden; Factor XIII deficiency; 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 cancer 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; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Phaeochromocytoma; Polycythaemia; 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 - Predictive genetic testing - Whole genome sequencing studies for inherited (germline) DNA/RNA changes | Blood; Extracted DNA; Oral fluid | Ashkenazi Jewish; Azospermia; Copy number variation (CNV); Duchenne-Becker muscular dystrophy; Factor V Leiden; Factor XIII deficiency; Familial adenomatous polyposis; Familial hypercholesterolemia; Founder mutations; Haemochromatosis; Haemophilia B; Haemophilia C; Hereditary breast and ovarian cancer syndrome; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Juvenile polyposis; Lynch syndrome; Macrocephaly PTEN gene mutation; Maturity onset diabetes of the young (MODY); Medullary thyroid cancer (RET gene mutation); Mendelian disorders; Multiple endocrine neoplasia type 1 (MEN1); Multiple endocrine neoplasia type 2 (MEN2); Nucleic acid analysis for specific variants; Ophthalmic disease; PTEN hamartoma tumour syndrome (PHTS); Polycystic kidney disease; Prothrombin variant; Retinal dystrophy; Schwannomatosis; Thrombophilia; Von Willebrand disorder |
| 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; Factor V Leiden; Factor XIII deficiency; Familial Mediterranean fever; Familial adenomatous polyposis; Familial hemiplegic migraine; Familial hemophagocytic lymphohistiocytosis; 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 cancer 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 | 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; Factor V Leiden; Factor XIII 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 cancer 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); 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; Factor V Leiden; Factor XIII 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 cancer 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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Accreditation No.
3427
Site No.
24662
Print date
28 Nov 2023
END OF SCOPE
