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QHerit™ 96 Diseases, Male
Test Code14227
CPT Codes
81443
Preferred Specimen
10 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL
Instructions
Patient's gender is required.
Ship at room temperature in an insulated container by overnight delivery Monday through Friday. Samples should not be shipped on Saturday or the day before or after a holiday to ensure viability. During warmer months, we recommend shipping with cool packs.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Ship at room temperature in an insulated container by overnight delivery Monday through Friday. Samples should not be shipped on Saturday or the day before or after a holiday to ensure viability. During warmer months, we recommend shipping with cool packs.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 48 hours
Refrigerated: 14 days
Frozen: Unacceptable
Refrigerated: 14 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Sample exposed to heat • Received frozen
Methodology
Next Generation Sequencing • Sanger Sequencing
FDA Status
These results should be used in the context of available clinical findings, and should not be used as the sole basis for treatment. This test was developed and its performance characteristics determined by Baylor Genetics, 2450 Holcombe Blvd., Houston, TX 77021. Laboratory director: Christine M. Eng, MD. US Food and Drug Administration (FDA) does not require this test to go through premarket FDA review. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.
Setup Schedule
Set up: Mon-Sat; Report available: 14 days
Reference Range
See Laboratory Report
Clinical Significance
This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.
This test analyzes genetic variants associated with 96 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 3 recommendations [1,2]; this panel does not include X-linked genes. Conditions included in this panel: Surfactant dysfunction, ABCA3-related (ABCA3); Familial hyperinsulinism, ABCC8-related (ABCC8); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Beta-ketothiolase deficiency (ACAT1); Aspartylglycosaminuria (AGA); Primary hyperoxaluria, type I (AGXT); Joubert syndrome 3 (AHI1); Autoimmune polyglandular syndrome, type 1 (AIRE); Hereditary fructose intolerance (ALDOB); Hypophosphatasia (ALPL); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Metachromatic leukodystrophy, ARSA-related (ARSA); Argininosuccinic aciduria (ASL); Canavan disease (ASPA); Wilson disease (ATP7B); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Maple syrup urine disease, type 1B (BCKDHB); Bloom syndrome (BLM); Biotinidase deficiency (BTD); Homocystinuria, CBS-related (CBS); Joubert syndrome 9 (CC2D2A); Congenital hydrocephalus 1 (CCDC88C); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Cystic fibrosis (CFTR); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Myotonia congenita (CLCN1); Usher syndrome, type 3A (CLRN1); Achromatopsia, CNGB3-related (CNGB3); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Carnitine palmitoyltransferase II deficiency (CPT2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Cerebrotendinous xanthomatosis (CYP27A1); Vitamin D-dependent rickets, type 1A (CYP27B1); Smith-Lemli-Opitz syndrome (DHCR7); Retinitis pigmentosa 59 (DHDDS); Dihydrolipoamide dehydrogenase deficiency (DLD); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Familial dysautonomia (ELP1); ERCC2-related conditions (ERCC2); Ellis-van Creveld syndrome (EVC2); Tyrosinemia, type I (FAH); Fanconi anemia, complementation group C (FANCC); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Fukuyama congenital muscular dystrophy (FKTN); Trimethylaminuria (FMO3); Friedreich ataxia (FXN); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type II / Pompe disease (GAA); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Fraser syndrome, type 3 (GRIP1); Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies (HBB); Tay-Sachs disease (HEXA); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Donnai-Barrow syndrome (LRP2); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Mucolipidosis IV (MCOLN1); Autosomal recessive primary microcephaly 1 (MCPH1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Schindler disease (NAGA); Nemaline myopathy 2 (NEB); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Oculocutaneous albinism, type II (OCA2); Phenylalanine hydroxylase deficiency (PAH); Usher syndrome, type 1F (PCDH15); Autosomal recessive polycystic kidney disease (PKHD1); Congenital disorder of glycosylation, type Ia (PMM2); POLG-related disorders (POLG); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Pontocerebellar hypoplasia, type 6 (RARS2); Aicardi-Goutieres syndrome 2 (RNASEH2B); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Skeletal dysplasia, SLC26A2-related (SLC26A2); Pendred syndrome (SLC26A4); Glycogen storage disease, type Ib / IIw (SLC37A4); Spinal muscular atrophy (SMN1); Niemann-Pick disease, types A/B (SMPD1); Atransferrinemia (TF); Joubert syndrome 2 (TMEM216); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Oculocutaneous albinism, type I (TYR); Usher syndrome, type 2A (USH2A); Xeroderma pigmentosum, group C (XPC).
1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 38814327
2 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390
This test analyzes genetic variants associated with 96 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 3 recommendations [1,2]; this panel does not include X-linked genes. Conditions included in this panel: Surfactant dysfunction, ABCA3-related (ABCA3); Familial hyperinsulinism, ABCC8-related (ABCC8); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Beta-ketothiolase deficiency (ACAT1); Aspartylglycosaminuria (AGA); Primary hyperoxaluria, type I (AGXT); Joubert syndrome 3 (AHI1); Autoimmune polyglandular syndrome, type 1 (AIRE); Hereditary fructose intolerance (ALDOB); Hypophosphatasia (ALPL); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Metachromatic leukodystrophy, ARSA-related (ARSA); Argininosuccinic aciduria (ASL); Canavan disease (ASPA); Wilson disease (ATP7B); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Maple syrup urine disease, type 1B (BCKDHB); Bloom syndrome (BLM); Biotinidase deficiency (BTD); Homocystinuria, CBS-related (CBS); Joubert syndrome 9 (CC2D2A); Congenital hydrocephalus 1 (CCDC88C); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Cystic fibrosis (CFTR); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Myotonia congenita (CLCN1); Usher syndrome, type 3A (CLRN1); Achromatopsia, CNGB3-related (CNGB3); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Carnitine palmitoyltransferase II deficiency (CPT2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Cerebrotendinous xanthomatosis (CYP27A1); Vitamin D-dependent rickets, type 1A (CYP27B1); Smith-Lemli-Opitz syndrome (DHCR7); Retinitis pigmentosa 59 (DHDDS); Dihydrolipoamide dehydrogenase deficiency (DLD); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Familial dysautonomia (ELP1); ERCC2-related conditions (ERCC2); Ellis-van Creveld syndrome (EVC2); Tyrosinemia, type I (FAH); Fanconi anemia, complementation group C (FANCC); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Fukuyama congenital muscular dystrophy (FKTN); Trimethylaminuria (FMO3); Friedreich ataxia (FXN); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type II / Pompe disease (GAA); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Fraser syndrome, type 3 (GRIP1); Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies (HBB); Tay-Sachs disease (HEXA); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Donnai-Barrow syndrome (LRP2); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Mucolipidosis IV (MCOLN1); Autosomal recessive primary microcephaly 1 (MCPH1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Schindler disease (NAGA); Nemaline myopathy 2 (NEB); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Oculocutaneous albinism, type II (OCA2); Phenylalanine hydroxylase deficiency (PAH); Usher syndrome, type 1F (PCDH15); Autosomal recessive polycystic kidney disease (PKHD1); Congenital disorder of glycosylation, type Ia (PMM2); POLG-related disorders (POLG); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Pontocerebellar hypoplasia, type 6 (RARS2); Aicardi-Goutieres syndrome 2 (RNASEH2B); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Skeletal dysplasia, SLC26A2-related (SLC26A2); Pendred syndrome (SLC26A4); Glycogen storage disease, type Ib / IIw (SLC37A4); Spinal muscular atrophy (SMN1); Niemann-Pick disease, types A/B (SMPD1); Atransferrinemia (TF); Joubert syndrome 2 (TMEM216); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Oculocutaneous albinism, type I (TYR); Usher syndrome, type 2A (USH2A); Xeroderma pigmentosum, group C (XPC).
1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 38814327
2 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390
