QHerit™ 559 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 559 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: Triple A syndrome (AAAS); GABA-transaminase deficiency (ABAT); Congenital ichthyosis, ABCA12-related (ABCA12); Surfactant dysfunction, ABCA3-related (ABCA3); ABCA4-related disorders (ABCA4); Progressive familial intrahepatic cholestasis 2 (ABCB11); Progressive familial intrahepatic cholestasis 3 (ABCB4); Dubin-Johnson syndrome (ABCC2); Pseudoxanthoma elasticum (ABCC6); Familial hyperinsulinism, ABCC8-related (ABCC8); Mitochondrial complex I deficiency, ACAD9-related (ACAD9); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Beta-ketothiolase deficiency (ACAT1); Peroxisomal acyl-CoA oxidase deficiency (ACOX1); Combined malonic and methylmalonic aciduria (ACSF3); Adenosine deaminase deficiency (ADA); Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2); ADAMTSL4-related eye disorders (ADAMTSL4); Bilateral frontoparietal polymicrogyria (ADGRG1); Usher syndrome, type 2C (ADGRV1); Aspartylglycosaminuria (AGA); Glycogen storage disease, type III (AGL); Rhizomelic chondrodysplasia punctata, type 3 (AGPS); Primary hyperoxaluria, type I (AGXT); Joubert syndrome 3 (AHI1); Leber congenital amaurosis 4 (AIPL1); Autoimmune polyglandular syndrome, type 1 (AIRE); Sjogren-Larsson syndrome (ALDH3A2); Pyridoxine-dependent epilepsy (ALDH7A1); Hereditary fructose intolerance (ALDOB); Congenital disorder of glycosylation, type Ik (ALG1); Congenital disorder of glycosylation, type Ic (ALG6); Alstrom syndrome (ALMS1); Hypophosphatasia (ALPL); Imerslund-Grsbeck syndrome 2 (AMN); Glycine encephalopathy, AMT-related (AMT); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); MEDNIK syndrome (AP1S1); Hermansky-Pudlak syndrome, type 2 (AP3B1); Nephrogenic diabetes insipidus type 2 (AQP2); Argininemia (ARG1); Joubert syndrome 8 (ARL13B); Bardet-Biedl syndrome 3 (ARL6); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Farber lipogranulomatosis (ASAH1); Argininosuccinic aciduria (ASL); Asparagine synthetase deficiency (ASNS); Canavan disease (ASPA); Citrullinemia, type I (ASS1); Ataxia-telangiectasia (ATM); Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1); Wilson disease (ATP7B); Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1); Joubert syndrome 27 (B9D1); Joubert syndrome 34 (B9D2); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 12 (BBS12); Bardet-Biedl syndrome 2 (BBS2); Bardet-Biedl syndrome 4 (BBS4); Bardet-Biedl syndrome 5 (BBS5); Bardet-Biedl syndrome 7 (BBS7); Bardet-Biedl syndrome 9 (BBS9); Pseudocholinesterase deficiency (BCHE); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); GRACILE syndrome (BCS1L); Bloom syndrome (BLM); Hermansky-Pudlak syndrome, type 8 (BLOC1S3); Hermansky-Pudlak syndrome, type 9 (BLOC1S6); Osteogenesis imperfecta, type XIII (BMP1); Fanconi anemia, complementation group J (BRIP1); Bartter syndrome, type 4A (BSND); Biotinidase deficiency (BTD); Orofaciodigital syndrome, type XIV (C2CD3); Developmental and epileptic encephalopathy 50 (CAD); Desbuquois dysplasia, type I (CANT1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Catecholaminergic polymorphic ventricular tachycardia, type 2 (CASQ2); Homocystinuria, CBS-related (CBS); Autosomal recessive intellectual developmental disorder 3 (CC2D1A); Joubert syndrome 9 (CC2D2A); Primary ciliary dyskinesia, CCDC103-related (CCDC103); Primary ciliary dyskinesia, CCDC39-related (CCDC39); Congenital hydrocephalus 1 (CCDC88C); Progressive pseudorheumatoid dysplasia (CCN6); Severe combined immunodeficiency, CD3D-related (CD3D); Severe combined immunodeficiency, CD3E-related (CD3E); Hyper-IgM syndrome, type 3 (CD40); CD59-mediated hemolytic anemia (CD59); Usher syndrome, type 1D (CDH23); Joubert syndrome 25 (CEP104); Joubert syndrome 31 (CEP120); CEP152-related disorders (CEP152); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Joubert syndrome 15 (CEP41); Retinitis pigmentosa 26 (CERKL); Cystic fibrosis (CFTR); Congenital myasthenic syndrome, CHAT-related (CHAT); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Multiple pterygium syndrome, lethal type (CHRNG); Usher syndrome, type 1J (CIB2); Bare lymphocyte syndrome, type II (CIITA); 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); COL11A2-related disorders (COL11A2); Junctional epidermolysis bullosa, COL17A1-related (COL17A1); Steel syndrome (COL27A1); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Congenital myasthenic syndrome, COLQ-related (COLQ); Mitochondrial complex IV deficiency, nuclear type 6 (COX15); Joubert syndrome 17 (CPLANE1); Carbamoyl phosphate synthetase I deficiency (CPS1); Carnitine palmitoyltransferase I deficiency (CPT1A); Carnitine palmitoyltransferase II deficiency (CPT2); CRB1-related retinal dystrophies (CRB1); Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA); Osteogenesis imperfecta, type VII (CRTAP); Joubert syndrome 21 (CSPP1); Cystinosis (CTNS); Galactosialidosis (CTSA); CTSC-related disorders (CTSC); Neuronal ceroid lipofuscinosis, CTSD-related (CTSD); Pycnodysostosis (CTSK); Chronic granulomatous disease 4 (CYBA); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1); Corticosterone methyloxidase deficiency (CYP11B2); Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1); Aromatase deficiency (CYP19A1); Primary congenital glaucoma (CYP1B1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Cerebrotendinous xanthomatosis (CYP27A1); Vitamin D-dependent rickets, type 1A (CYP27B1); CYP7B1-related disorders (CYP7B1); Maple syrup urine disease, type 2 (DBT); Woodhouse-Sakati syndrome (DCAF17); Omenn syndrome (DCLRE1C); Warsaw breakage syndrome (DDX11); DGAT1 deficiency (DGAT1); Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 (DGUOK); Smith-Lemli-Opitz syndrome (DHCR7); Retinitis pigmentosa 59 (DHDDS); Perlman syndrome (DIS3L2); Dihydrolipoamide dehydrogenase deficiency (DLD); Spondylocostal dysostosis 1 (DLL3); Primary ciliary dyskinesia, DNAH11-related (DNAH11); Primary ciliary dyskinesia, DNAH5-related (DNAH5); Primary ciliary dyskinesia, DNAI1-related (DNAI1); Primary ciliary dyskinesia, DNAI2-related (DNAI2); Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B); Congenital myasthenic syndrome, DOK7-related (DOK7); Dihydropyrimidine dehydrogenase deficiency (DPYD); Thyroid dyshormonogenesis 6 (DUOX2); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Limb-girdle muscular dystrophy, type 2B (DYSF); Wolcott-Rallison syndrome (EIF2AK3); Leukoencephalopathy with vanishing white matter 1 (EIF2B1); Leukoencephalopathy with vanishing white matter 2 (EIF2B2); Leukoencephalopathy with vanishing white matter 3 (EIF2B3); Leukoencephalopathy with vanishing white matter 4 (EIF2B4); Leukoencephalopathy with vanishing white matter (EIF2B5); Familial dysautonomia (ELP1); EPG5-related disorder (EPG5); ERCC2-related conditions (ERCC2); Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6); Cockayne syndrome, type A (ERCC8); Roberts-SC phocomelia syndrome (ESCO2); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH); Ethylmalonic encephalopathy (ETHE1); Ellis-van Creveld syndrome (EVC); Ellis-van Creveld syndrome (EVC2); Pontocerebellar hypoplasia, type 1B (EXOSC3); Retinitis pigmentosa 25 (EYS); Factor XI deficiency / Hemophilia C (F11); Factor II deficiency / Prothrombin deficiency (F2); Factor V deficiency (F5); Tyrosinemia, type I (FAH); Retinitis pigmentosa 28 (FAM161A); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group C (FANCC); Fanconi anemia, complementation group D2 (FANCD2); Fanconi anemia, complementation group E (FANCE); Fanconi anemia, complementation group F (FANCF); Fanconi anemia, complementation group G (FANCG); Fanconi anemia, complementation group I (FANCI); Fanconi anemia, complementation group L (FANCL); Fructose-1,6-bisphosphatase deficiency (FBP1); Parkinson disease 15 (FBXO7); Fumarase deficiency (FH); Osteogenesis imperfecta, type XI (FKBP10); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Fukuyama congenital muscular dystrophy (FKTN); Trimethylaminuria (FMO3); Severe combined immunodeficiency, FOXN1-related (FOXN1); Mitochondrial complex I deficiency, nuclear type 19 (FOXRED1); Fraser syndrome, type 1 (FRAS1); Fraser syndrome, type 2 (FREM2); Fucosidosis (FUCA1); Friedreich ataxia (FXN); Glycogen storage disease, type Ia (G6PC1); G6PC3 deficiency (G6PC3); Glycogen storage disease, type II / Pompe disease (GAA); Krabbe disease (GALC); Galactosemia, type III / Galactose epimerase deficiency (GALE); Galactosemia, type II / Galactokinase deficiency (GALK1); Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS); Hyperphosphatemic familial tumoral calcinosis (GALNT3); Galactosemia (GALT); Guanidinoacetate methyltransferase deficiency (GAMT); Arginine:glycine amidinotransferase deficiency (GATM); Gaucher disease (GBA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Glutaric acidemia, type I (GCDH); GCH1-related disorders (GCH1); GDF5-related disorders (GDF5); Combined oxidative phosphorylation deficiency 1 (GFM1); Laron syndrome (GHR); 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); Rhizomelic chondrodysplasia punctata, type 2 (GNPAT); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis III gamma (GNPTG); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Geroderma osteodysplastica (GORAB); Bernard-Soulier syndrome, type A (GP1BA); Bernard-Soulier syndrome, type C (GP9); Primary hyperoxaluria, type II (GRHPR); Fraser syndrome, type 3 (GRIP1); Glutathione synthetase deficiency (GSS); Leber congenital amaurosis 1 (GUCY2D); Mucopolysaccharidosis, type VII / Sly syndrome (GUSB); 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB); Hereditary hemochromatosis, type 2B (HAMP); Congenital neutropenia, HAX1-related (HAX1); Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies (HBB); Tay-Sachs disease (HEXA); Sandhoff disease (HEXB); Alkaptonuria (HGD); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Hereditary hemochromatosis, type 2A (HJV); Holocarboxylase synthetase deficiency (HLCS); 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); Heme oxygenase 1 deficiency (HMOX1); Primary hyperoxaluria, type III (HOGA1); Tyrosinemia, type III (HPD); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hermansky-Pudlak syndrome, type 4 (HPS4); Hermansky-Pudlak syndrome, type 5 (HPS5); Hermansky-Pudlak syndrome, type 6 (HPS6); 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3); D-bifunctional protein deficiency (HSD17B4); 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2); Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1); Hydrolethalus syndrome (HYLS1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); IGHMBP2-related disorders (IGHMBP2); Severe combined immunodeficiency, IKBKB-related (IKBKB); Severe combined immunodeficiency, IL7R-related (IL7R); Joubert syndrome 1 (INPP5E); Nephronophthisis 2 (INVS); Senior-Loken syndrome 5 (IQCB1); Junctional epidermolysis bullosa, ITGA6-related (ITGA6); ITGB3-related disorders (ITGB3); Junctional epidermolysis bullosa, ITGB4-related (ITGB4); Isovaleric acidemia (IVD); Severe combined immunodeficiency, JAK3-related (JAK3); Bartter syndrome, type 2 (KCNJ1); 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); Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1); Leber congenital amaurosis 5 (LCA5); Familial hypercholesterolemia, LDLR-related (LDLR); Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1); Combined pituitary hormone deficiency, type 3 (LHX3); Stuve-Wiedemann syndrome (LIFR); LIG4 syndrome (LIG4); Lysosomal acid lipase deficiency (LIPA); Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Lipoprotein lipase deficiency (LPL); LRAT-related disorders (LRAT); Donnai-Barrow syndrome (LRP2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Chediak-Higashi syndrome (LYST); Retinitis pigmentosa 62 (MAK); Alpha-mannosidosis (MAN2B1); Beta-mannosidosis (MANBA); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Methylmalonyl-CoA epimerase deficiency (MCEE); Mucolipidosis IV (MCOLN1); Autosomal recessive primary microcephaly 1 (MCPH1); MECR-related neurologic disorder (MECR); Infantile cerebral and cerebellar atrophy (MED17); Familial Mediterranean fever (MEFV); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8); Bardet-Biedl syndrome 6 (MKKS); MKS1-related disorders (MKS1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Malonyl-CoA decarboxylase deficiency (MLYCD); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC); Methylmalonic aciduria, MMUT-related (MMUT); Molybdenum cofactor deficiency of complementation group A (MOCS1); Molybdenum cofactor deficiency of complementation group B (MOCS2); Congenital disorder of glycosylation, type Ib (MPI); Congenital amegakaryocytic thrombocytopenia (MPL); MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17); Ataxia-telangiectasia-like disorder 1 (MRE11); Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR); Homocystinuria-megaloblastic anemia, cblG complementation type (MTR); Homocystinuria, type cblE (MTRR); Abetalipoproteinemia (MTTP); Congenital myasthenic syndrome, MUSK-related (MUSK); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A); Usher syndrome, type 1B (MYO7A); Schindler disease (NAGA); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); N-acetylglutamate synthase deficiency (NAGS); Nijmegen breakage syndrome (NBN); Chronic granulomatous disease 2 (NCF2); Charcot-Marie-Tooth disease, type 4D (NDRG1); Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2); Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5); Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6); Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4); Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6); Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7); Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1); Nemaline myopathy 2 (NEB); Sialidosis (NEU1); Congenital disorder of deglycosylation, type 1 (NGLY1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, type C2 (NPC2); NPHP1 nephronophthisis-related ciliopathies (NPHP1); NPHP3 nephronophthisis-related ciliopathies (NPHP3); NPHP4 nephronophthisis-related ciliopathies (NPHP4); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Enhanced S-cone syndrome (NR2E3); Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3); Congenital insensitivity to pain with anhidrosis (NTRK1); Ornithine aminotransferase deficiency (OAT); Oculocutaneous albinism, type II (OCA2); 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3); Osteopetrosis, OSTM1-related (OSTM1); Nonsyndromic hearing loss and deafness (DFNB) 22 (OTOA); Nonsyndromic hearing loss and deafness (DFNB) 9 (OTOF); Osteogenesis imperfecta, type VIII (P3H1); Phenylalanine hydroxylase deficiency (PAH); Pantothenate kinase-associated neurodegeneration (PKAN) (PANK2); Pyruvate carboxylase deficiency (PC); Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency (PCBD1); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Usher syndrome, type 1F (PCDH15); Microcephalic osteodysplastic primordial dwarfism, type II (PCNT); Pyruvate dehydrogenase E1-beta deficiency (PDHB); Prolidase deficiency (PEPD); Mitochondrial complex IV deficiency, nuclear type 12 (PET100); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX10-related (PEX10); Zellweger spectrum disorders, PEX12-related (PEX12); Zellweger spectrum disorders, PEX13-related (PEX13); Zellweger spectrum disorders, PEX16-related (PEX16); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX26-related (PEX26); Zellweger spectrum disorders, PEX5-related (PEX5); Zellweger spectrum disorders, PEX6-related (PEX6); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Glycogen storage disease, type VII (PFKM); PGM3-congenital disorder of glycosylation / Immunodeficiency 23 (PGM3); Phosphoglycerate dehydrogenase deficiency (PHGDH); Glycogen storage disease, type IXb (PHKB); Glycogen storage disease, type IXc (PHKG2); Refsum disease (PHYH); PIGN-related disorders (PIGN); Nonsyndromic hearing loss and deafness (DFNB) 59 (PJVK); Autosomal recessive polycystic kidney disease (PKHD1); PLA2G6-associated neurodegeneration (PLA2G6); Steroid-resistant nephrotic syndrome, type 3 (PLCE1); PLEKHG5-related disorders (PLEKHG5); PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1); Congenital disorder of glycosylation, type Ia (PMM2); Pyridoxamine 5'-phosphate oxidase deficiency (PNPO); POLG-related disorders (POLG); Xeroderma pigmentosum, variant type (XP-V) (POLH); Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1); Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1); Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2); Cytochrome P450 oxidoreductase deficiency (POR); Combined or isolated pituitary hormone deficiency, type 1 (POU1F1); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Retinitis pigmentosa 36 (PRCD); Brittle cornea syndrome 2 (PRDM5); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Combined pituitary hormone deficiency, type 2 (PROP1); Metachromatic leukodystrophy due to saposin B deficiency (PSAP); Severe combined immunodeficiency, PTPRC-related (PTPRC); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Myopathy, lactic acidosis, and sideroblastic anemia (PUS1); Glycogen storage disease, type V (PYGM); Dihydropteridine reductase (DHPR) deficiency (QDPR); Carpenter syndrome (RAB23); Severe combined immunodeficiency, RAG1-related (RAG1); Severe combined immunodeficiency, RAG2-related (RAG2); Congenital myasthenic syndrome, RAPSN-related (RAPSN); Pontocerebellar hypoplasia, type 6 (RARS2); Leber congenital amaurosis 13 (RDH12); RLBP1-related retinopathies (RLBP1); Cartilage-hair hypoplasia (RMRP); Aicardi-Goutieres syndrome 4 (RNASEH2A); Aicardi-Goutieres syndrome 2 (RNASEH2B); Aicardi-Goutieres syndrome 3 (RNASEH2C); Leber congenital amaurosis 2 (RPE65); Ciliopathies, RPGRIP1L-related (RPGRIP1L); Dyskeratosis congenita, RTEL1-related (RTEL1); Muscular dystrophy-dystroglycanopathy, type A, 10 (RXYLT1); RYR1-related disorders (RYR1); Spastic ataxia, Charlevoix-Saguenay type (SACS); Normophosphatemic familial tumoral calcinosis (SAMD9); Aicardi-Goutieres syndrome 5 (SAMHD1); Shwachman-Diamond syndrome (SBDS); Action myoclonus renal failure syndrome (SCARB2); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Congenital dyserythropoietic anemia, type II (SEC23B); Progressive cerebello-cerebral atrophy (SEPSECS); Alpha-1 antitrypsin deficiency (SERPINA1); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Limb-girdle muscular dystrophy, type 6 (SGCD); Limb-girdle muscular dystrophy, type 5 (SGCG); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Trichohepatoenteric syndrome 2 (SKIC2); Bartter syndrome, type 1 (SLC12A1); Gitelman syndrome (SLC12A3); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Free sialic acid storage disorders (SLC17A5); Thiamine-responsive megaloblastic anemia syndrome (SLC19A2); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4); Carnitine deficiency, systemic primary (SLC22A5); Citrin deficiency / Citrullinemia, type II (SLC25A13); Ornithine translocase deficiency (SLC25A15); Carnitine-acylcarnitine translocase deficiency (SLC25A20); Skeletal dysplasia, SLC26A2-related (SLC26A2); Congenital secretory chloride diarrhea 1 (SLC26A3); Pendred syndrome (SLC26A4); Ichthyosis prematurity syndrome (SLC27A4); Arthrogryposis, mental retardation, and seizures (SLC35A3); Glycogen storage disease, type Ib / IIw (SLC37A4); Foveal hypoplasia 2 (SLC38A8); Acrodermatitis enteropathica (SLC39A4); Oculocutaneous albinism, type IV (SLC45A2); Corneal dystrophy and perceptive deafness syndrome (SLC4A11); Renal tubular acidosis (SLC4A4); Thyroid dyshormonogenesis 1 (SLC5A5); Lysinuric protein intolerance (SLC7A7); Schimke immunoosseous dysplasia (SMARCAL1); Spinal muscular atrophy (SMN1); Niemann-Pick disease, types A/B (SMPD1); Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome (SNAP29); SPG11-related disorders (SPG11); Sepiapterin reductase deficiency (SPR); 5-alpha-reductase deficiency (SRD5A2); Amish infantile epilepsy syndrome (ST3GAL5); Lipoid congenital adrenal hyperplasia (STAR); Familial hemophagocytic lymphohistiocytosis 4 (STX11); Familial hemophagocytic lymphohistiocytosis 5 (STXBP2); Multiple sulfatase deficiency (SUMF1); Isolated sulfite oxidase deficiency (SUOX); SURF1-related disorders (SURF1); Nonsyndromic hearing loss and deafness (DFNB) 76 (SYNE4); Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2); Tyrosinemia, type II (TAT); Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (TBCD); TBCE-related disorders (TBCE); Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1); Transcobalamin II deficiency (TCN2); TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2); Dyskeratosis congenita spectrum disorders (TERT); Atransferrinemia (TF); Hereditary hemochromatosis, type 3 (TFR2); Thyroid dyshormonogenesis 3 (TG); Autosomal recessive congenital ichthyosis (TGM1); Tyrosine hydroxylase deficiency (TH); Progressive familial intrahepatic cholestasis 4 (TJP2); TK2-related mitochondrial disorders (TK2); Nonsyndromic hearing loss and deafness (DFNB) 7 (TMC1); Joubert syndrome 2 (TMEM216); TMEM67-related disorders (TMEM67); Nonsyndromic hearing loss and deafness (DFNB) 8 (TMPRSS3); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Thyroid dyshormonogenesis 2A (TPO); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); TREX1-related disorders (TREX1); TRIM32-related disorders (TRIM32); Mulibrey nanism (TRIM37); Acute infantile liver failure (TRMU); Pontocerebellar hypoplasia, type 2B (TSEN2); Pontocerebellar hypoplasia, types 4 and 2A (TSEN54); Combined oxidative phosphorylation deficiency 3 (TSFM); Congenital hypothyroidism, TSHB-related (TSHB); Congenital hypothyroidism, TSHR-related (TSHR); Trichohepatoenteric syndrome 1 (TTC37); Bardet-Biedl syndrome 8 (TTC8); Ataxia with isolated vitamin E deficiency (TTPA); TULP1-related disorders (TULP1); Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type III (TYRP1); Johanson-Blizzard syndrome (UBR1); Familial hemophagocytic lymphohistiocytosis 3 (UNC13D); Beta-ureidopropionase deficiency (UPB1); Usher syndrome, type 1C (USH1C); Usher syndrome, type 2A (USH2A); Vitamin D-resistant rickets, type 2A (VDR); VLDLR-associated cerebellar hypoplasia (VLDLR); Hypomyelinating leukodystrophy 12 (VPS11); Choreoacanthocytosis (VPS13A); Cohen syndrome (VPS13B); Severe congenital neutropenia 5 (VPS45); Pontocerebellar hypoplasia, type 2E (VPS53); Pontocerebellar hypoplasia, type 1A (VRK1); Microphthalmia / Anophthalmia (VSX2); Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A); Werner syndrome (WRN); WWOX deficiency (WWOX); Xeroderma pigmentosum, group A (XPA); Xeroderma pigmentosum, group C (XPC); Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24); Spastic paraplegia, type 15 (ZFYVE26); Brittle cornea syndrome 1 (ZNF469).

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