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Address Details:
370 Victoria Street
DARLINGHURST, NSW 2010
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www.Clinicallabs.com.au

Availability:
Services available to external clients
Supervision:
GY (General)

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ISO 15189 (2012)
Human Pathology
SERVICEPRODUCTDETERMINANTTECHNIQUEPROCEDURELIMITATION / RANGE
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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for known variants; Ophthalmic disease; Phaeochromocytoma; Polycythaemia; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; Smith-Lemli-Opitz syndrome; Thiopurine methyltransferase (TPMT); Thiopurine methyltransferase (TPMT) genotyping; Thrombophilia; Torsional dystonia (TOR1A) common mutation screen; Trisomy 13; Trisomy 18; Trisomy 21; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycythaemia; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycythaemia; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LHCAD) deficiency; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for specific variants; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 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 known variants; Ophthalmic disease; Polycystic kidney disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Retinal dystrophy; Schwhannomatosis; 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 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 known variants; Ophthalmic disease; Polycystic kidney disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Retinal dystrophy; Schwhannomatosis; 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 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease; Niemann-Pick disease type C; Nucleic acid analysis for known variants; Ophthalmic disease; Phaeochromocytoma; Polycythaemia; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 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 known variants; Ophthalmic disease; Polycystic kidney disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Retinal dystrophy; Schwhannomatosis; 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hemophagocytic lymphohistiocytosis; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; Kennedy's disease (spinal and bulbar muscular atrophy); Krabbe disease; Laminopathies; Leigh syndrome; Long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD); 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycythaemia; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rett syndrome; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); 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 adenomatous polyposis; Familial hemiplegic migraine; Familial hypercholesterolemia; Familial Mediterranean fever; Fanconi anaemia; Founder mutations; Galactosemia; Gaucher disease; Glycogen storage disease type II (Pompe disease); Haemochromatosis; Haemophilia B; Haemophilia C; Hemangioblastoma; Hereditary breast and ovarian syndrome; Hereditary childhood epilepsy; Hereditary diffuse gastric cancer; Hereditary haemochromatosis; Hereditary non-syndromic deafness; Hexosaminidase A deficiency (Tay Sachs disease); Immunodeficiency; Incontinentia pigmenti; Inherited blood borne tumours; Inherited cancer syndromes; Inherited cardiac disorders - LQT, Brugada syndrome, DCM, HCM, ARVC, CPVT, aortopathy; Inherited solid tumours; Intellectual disability; Interleukin 28B (IL28B) genotype; Juvenile polyposis; 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); Neruronal ceroid lipofuscinosis; Niemann-Pick disease type C; Nucleic acid analysis for unknown variants; Ophthalmic disease; Phaeochromocytoma; Polycystic kidney disease; Polycythaemia; Prader-Willi syndrome; Prelingual deafness; Primary cilary dyskenesis; Primary immune deficiency disease; Prothrombin variant; PTEN Hamartoma tumour syndrome (PHTS); Rare undiagnosed disease; Retinal dystrophy; Rhizomelic chondrodysplasia punctata; Schwhannomatosis; 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; TWIK related spinal cord potassium (TRESK); Von Willebrand disorder; X-linked adrenoleukodystrophy; Zellweger;