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QHerit™ 198 Diseases, Female
Test Code14230
CPT Codes
81443, 81243
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 • Polymerase Chain Reaction with reflex to Southern Blot
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 X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 179 Diseases, Male (Test Code 14231). 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 198 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); 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 10 (BBS10); 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 deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dyskeratosis congenita, RTEL1-related (RTEL1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Fabry disease, X-linked (GLA); Factor IX deficiency / Hemophilia B (F9); Factor XI deficiency / Hemophilia C (F11); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group C (FANCC); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); 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 III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Juvenile retinoschisis, X-linked (RS1); Krabbe disease (GALC); L1 syndrome (L1CAM);LAMA2 muscular dystrophy (LAMA2); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Menkes disease (ATP7A); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type II / Hunter syndrome (IDS); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); 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); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked Opitz G/BBB syndrome (MID1); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6)
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 198 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); 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 10 (BBS10); 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 deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dyskeratosis congenita, RTEL1-related (RTEL1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Fabry disease, X-linked (GLA); Factor IX deficiency / Hemophilia B (F9); Factor XI deficiency / Hemophilia C (F11); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group C (FANCC); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); 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 III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Juvenile retinoschisis, X-linked (RS1); Krabbe disease (GALC); L1 syndrome (L1CAM);LAMA2 muscular dystrophy (LAMA2); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Menkes disease (ATP7A); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type II / Hunter syndrome (IDS); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); 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); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked Opitz G/BBB syndrome (MID1); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6)
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
