QHerit™ 179 Diseases, Male

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 179 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 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); Adenosine deaminase deficiency (ADA); Aspartylglycosaminuria (AGA); Glycogen storage disease, type III (AGL); Primary hyperoxaluria, type I (AGXT); Joubert syndrome 3 (AHI1); Autoimmune polyglandular syndrome, type 1 (AIRE); Sjogren-Larsson syndrome (ALDH3A2); Hereditary fructose intolerance (ALDOB); Hypophosphatasia (ALPL); Glycine encephalopathy, AMT-related (AMT); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Argininosuccinic aciduria (ASL); Canavan disease (ASPA); Citrullinemia, type I (ASS1); Ataxia-telangiectasia (ATM); Wilson disease (ATP7B); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); GRACILE syndrome (BCS1L); Bloom syndrome (BLM); Biotinidase deficiency (BTD); Limb-girdle muscular dystrophy, type 2A (CAPN3); Homocystinuria, CBS-related (CBS); Joubert syndrome 9 (CC2D2A); Congenital hydrocephalus 1 (CCDC88C); Usher syndrome, type 1D (CDH23); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Cystic fibrosis (CFTR); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Myotonia congenita (CLCN1); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Usher syndrome, type 3A (CLRN1); Achromatopsia, CNGB3-related (CNGB3); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Carnitine palmitoyltransferase II deficiency (CPT2); Cystinosis (CTNS); 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); Maple syrup urine disease, type 2 (DBT); 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); Factor XI deficiency / Hemophilia C (F11); Tyrosinemia, type I (FAH); Fanconi anemia, complementation group A (FANCA); 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); Krabbe disease (GALC); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Glutaric acidemia, type I (GCDH); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); GLB1-related disorders (GLB1); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Lethal congenital contracture syndrome 1 (GLE1); GNE myopathy (GNE); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Fraser syndrome, type 3 (GRIP1); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies (HBB); Tay-Sachs disease (HEXA); Sandhoff disease (HEXB); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Holocarboxylase synthetase deficiency (HLCS); 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); D-bifunctional protein deficiency (HSD17B4); Hydrolethalus syndrome (HYLS1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Isovaleric acidemia (IVD); Familial hyperinsulinism, KCNJ11-related (KCNJ11); LAMA2 muscular dystrophy (LAMA2); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Donnai-Barrow syndrome (LRP2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Alpha-mannosidosis (MAN2B1); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Mucolipidosis IV (MCOLN1); Autosomal recessive primary microcephaly 1 (MCPH1); Infantile cerebral and cerebellar atrophy (MED17); Familial Mediterranean fever (MEFV); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Methylmalonic aciduria, MMUT-related (MMUT); Congenital amegakaryocytic thrombocytopenia (MPL); Abetalipoproteinemia (MTTP); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Usher syndrome, type 1B (MYO7A); Schindler disease (NAGA); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Nijmegen breakage syndrome (NBN); Nemaline myopathy 2 (NEB); Niemann-Pick disease, type C1 (NPC1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Oculocutaneous albinism, type II (OCA2); Phenylalanine hydroxylase deficiency (PAH); Pyruvate carboxylase deficiency (PC); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Usher syndrome, type 1F (PCDH15); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Autosomal recessive polycystic kidney disease (PKHD1); Congenital disorder of glycosylation, type Ia (PMM2); POLG-related disorders (POLG); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Combined pituitary hormone deficiency, type 2 (PROP1); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Pontocerebellar hypoplasia, type 6 (RARS2); Cartilage-hair hypoplasia (RMRP); Aicardi-Goutieres syndrome 2 (RNASEH2B); Dyskeratosis congenita, RTEL1-related (RTEL1); Spastic ataxia, Charlevoix-Saguenay type (SACS); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Carnitine deficiency, systemic primary (SLC22A5); Skeletal dysplasia, SLC26A2-related (SLC26A2); Pendred syndrome (SLC26A4); Arthrogryposis, mental retardation, and seizures (SLC35A3); Glycogen storage disease, type Ib / IIw (SLC37A4); Lysinuric protein intolerance (SLC7A7); Spinal muscular atrophy (SMN1); Niemann-Pick disease, types A/B (SMPD1); Tyrosinemia, type II (TAT); Atransferrinemia (TF); Autosomal recessive congenital ichthyosis (TGM1); Tyrosine hydroxylase deficiency (TH); Joubert syndrome 2 (TMEM216); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Oculocutaneous albinism, type I (TYR); Usher syndrome, type 1C (USH1C); 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