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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
Other Acceptable Specimens
2 mL saliva collected in QHerit At Home Saliva Collection Kit
Instructions
For Quest Referrals Shipping: 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.
When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Patient's gender is required.
When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Patient's gender is required.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
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
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. The female panel that corresponds to this male panel is QHerit™ 112 Diseases, Female (Test Code 14232). 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: 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Achromatopsia, CNGB3-related (CNGB3); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Aspartylglycosaminuria (AGA); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Cystic fibrosis (CFTR); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Fanconi anemia, complementation group C (FANCC); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Homocystinuria, CBS-related (CBS); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Niemann-Pick disease, types A/B (SMPD1); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Retinitis pigmentosa 59 (DHDDS); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Wilson disease (ATP7B); 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: 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Achromatopsia, CNGB3-related (CNGB3); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Aspartylglycosaminuria (AGA); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Cystic fibrosis (CFTR); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Fanconi anemia, complementation group C (FANCC); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Homocystinuria, CBS-related (CBS); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Niemann-Pick disease, types A/B (SMPD1); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Retinitis pigmentosa 59 (DHDDS); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Wilson disease (ATP7B); 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
