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QHerit™ 611 Diseases, Female
Test Code14228
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
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 • 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™ 559 Diseases, Male (Test Code 14229). 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 611 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3); 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2); 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3); 5-alpha-reductase deficiency (SRD5A2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); ABCA4-related disorders (ABCA4); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Acrodermatitis enteropathica (SLC39A4); Action myoclonus renal failure syndrome (SCARB2); Acute infantile liver failure (TRMU); ADAMTSL4-related eye disorders (ADAMTSL4); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Aicardi-Goutieres syndrome 3 (RNASEH2C); Aicardi-Goutieres syndrome 4 (RNASEH2A); Aicardi-Goutieres syndrome 5 (SAMHD1); Alkaptonuria (HGD); Alpha-1 antitrypsin deficiency (SERPINA1); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alpha-thalassemia intellectual disability syndrome, X-linked (ATRX); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Alstrom syndrome (ALMS1); Amish infantile epilepsy syndrome (ST3GAL5); Androgen insensitivity syndrome (AR); Arginine:glycine amidinotransferase deficiency (GATM); Argininemia (ARG1); Argininosuccinic aciduria (ASL); Aromatase deficiency (CYP19A1); Arthrogryposis, mental retardation, and seizures (SLC35A3); Asparagine synthetase deficiency (ASNS); Aspartylglycosaminuria (AGA); Ataxia with isolated vitamin E deficiency (TTPA); Ataxia-telangiectasia (ATM); Ataxia-telangiectasia-like disorder 1 (MRE11); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); Autosomal recessive intellectual developmental disorder 3 (CC2D1A); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); AVPR2-related disorders (AVPR2); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 12 (BBS12); Bardet-Biedl syndrome 2 (BBS2); Bardet-Biedl syndrome 3 (ARL6); Bardet-Biedl syndrome 4 (BBS4); Bardet-Biedl syndrome 5 (BBS5); Bardet-Biedl syndrome 6 (MKKS); Bardet-Biedl syndrome 7 (BBS7); Bardet-Biedl syndrome 8 (TTC8); Bardet-Biedl syndrome 9 (BBS9); Bare lymphocyte syndrome, type II (CIITA); Barth syndrome (TAFAZZIN (formerly TAZ)); Bartter syndrome, type 1 (SLC12A1); Bartter syndrome, type 2 (KCNJ1); Bartter syndrome, type 4A (BSND); Bernard-Soulier syndrome, type A (GP1BA); Bernard-Soulier syndrome, type C (GP9); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Beta-mannosidosis (MANBA); Beta-ureidopropionase deficiency (UPB1); Bilateral frontoparietal polymicrogyria (ADGRG1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Brittle cornea syndrome 1 (ZNF469); Brittle cornea syndrome 2 (PRDM5); Canavan disease (ASPA); Carbamoyl phosphate synthetase I deficiency (CPS1); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase I deficiency (CPT1A); Carnitine palmitoyltransferase II deficiency (CPT2); Carnitine-acylcarnitine translocase deficiency (SLC25A20); Carpenter syndrome (RAB23); Cartilage-hair hypoplasia (RMRP); Catecholaminergic polymorphic ventricular tachycardia, type 2 (CASQ2); CD59-mediated hemolytic anemia (CD59); CEP152-related disorders (CEP152); Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome (SNAP29); Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6); Cerebrotendinous xanthomatosis (CYP27A1); Charcot-Marie-Tooth disease, type 1X (GJB1); Charcot-Marie-Tooth disease, type 4D (NDRG1); Chediak-Higashi syndrome (LYST); Choreoacanthocytosis (VPS13A); Choroideremia, X-linked (CHM); Chronic granulomatous disease 2 (NCF2); Chronic granulomatous disease 4 (CYBA); Chronic granulomatous disease, X-linked (CYBB); Ciliopathies, RPGRIP1L-related (RPGRIP1L); Citrin deficiency / Citrullinemia, type II (SLC25A13); Citrullinemia, type I (ASS1); Cockayne syndrome, type A (ERCC8); Cohen syndrome (VPS13B); COL11A2-related disorders (COL11A2); Combined malonic and methylmalonic aciduria (ACSF3); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC); Combined or isolated pituitary hormone deficiency, type 1 (POU1F1); Combined oxidative phosphorylation deficiency 1 (GFM1); Combined oxidative phosphorylation deficiency 3 (TSFM); Combined oxidative phosphorylation deficiency 6 (AIFM1); Combined pituitary hormone deficiency, type 2 (PROP1); Combined pituitary hormone deficiency, type 3 (LHX3); Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1); Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of deglycosylation, type 1 (NGLY1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital disorder of glycosylation, type Ib (MPI); Congenital disorder of glycosylation, type Ic (ALG6); Congenital disorder of glycosylation, type Ik (ALG1); Congenital dyserythropoietic anemia, type II (SEC23B); Congenital hydrocephalus 1 (CCDC88C); Congenital hypothyroidism, TSHB-related (TSHB); Congenital hypothyroidism, TSHR-related (TSHR); Congenital ichthyosis, ABCA12-related (ABCA12); Congenital insensitivity to pain with anhidrosis (NTRK1); Congenital myasthenic syndrome, CHAT-related (CHAT); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Congenital myasthenic syndrome, COLQ-related (COLQ); Congenital myasthenic syndrome, DOK7-related (DOK7); Congenital myasthenic syndrome, MUSK-related (MUSK); Congenital myasthenic syndrome, RAPSN-related (RAPSN); Congenital neutropenia, HAX1-related (HAX1); Congenital secretory chloride diarrhea 1 (SLC26A3); Corneal dystrophy and perceptive deafness syndrome (SLC4A11); Corticosterone methyloxidase deficiency (CYP11B2); CRB1-related retinal dystrophies (CRB1); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); CTSC-related disorders (CTSC); CYP7B1-related disorders (CYP7B1); Cystic fibrosis (CFTR); Cystinosis (CTNS); Cytochrome P450 oxidoreductase deficiency (POR); D-bifunctional protein deficiency (HSD17B4); DCX-related disorders (DCX); Dent disease 1 (CLCN5); Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 (DGUOK); Desbuquois dysplasia, type I (CANT1); Developmental and epileptic encephalopathy 36 (ALG13); Developmental and epileptic encephalopathy 50 (CAD); DGAT1 deficiency (DGAT1); Dihydrolipoamide dehydrogenase deficiency (DLD); Dihydropteridine reductase (DHPR) deficiency (QDPR); Dihydropyrimidine dehydrogenase deficiency (DPYD); Donnai-Barrow syndrome (LRP2); Dubin-Johnson syndrome (ABCC2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dyskeratosis congenita spectrum disorders (TERT); Dyskeratosis congenita, RTEL1-related (RTEL1); Dyskeratosis congenita, X-linked (DKC1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (TBCD); Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2); Ellis-van Creveld syndrome (EVC); Ellis-van Creveld syndrome (EVC2); Emery-Dreifuss muscular dystrophy, X-linked (EMD); Enhanced S-cone syndrome (NR2E3); EPG5-related disorder (EPG5); ERCC2-related conditions (ERCC2); Ethylmalonic encephalopathy (ETHE1); Fabry disease, X-linked (GLA); Factor II deficiency / Prothrombin deficiency (F2); Factor IX deficiency / Hemophilia B (F9); Factor V deficiency (F5); Factor XI deficiency / Hemophilia C (F11); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hemophagocytic lymphohistiocytosis 3 (UNC13D); Familial hemophagocytic lymphohistiocytosis 4 (STX11); Familial hemophagocytic lymphohistiocytosis 5 (STXBP2); Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1); Familial hypercholesterolemia, LDLR-related (LDLR); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group B (FANCB); 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 J (BRIP1); Fanconi anemia, complementation group L (FANCL); Farber lipogranulomatosis (ASAH1); FHL1-related disorders (FHL1); Foveal hypoplasia 2 (SLC38A8); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 1 (FRAS1); Fraser syndrome, type 2 (FREM2); Fraser syndrome, type 3 (GRIP1); Free sialic acid storage disorders (SLC17A5); Friedreich ataxia (FXN); Fructose-1,6-bisphosphatase deficiency (FBP1); Fucosidosis (FUCA1); Fukuyama congenital muscular dystrophy (FKTN); Fumarase deficiency (FH); G6PC3 deficiency (G6PC3); GABA-transaminase deficiency (ABAT); Galactosemia (GALT); Galactosemia, type II / Galactokinase deficiency (GALK1); Galactosemia, type III / Galactose epimerase deficiency (GALE); Galactosialidosis (CTSA); Gaucher disease (GBA); GCH1-related disorders (GCH1); GDF5-related disorders (GDF5); Geroderma osteodysplastica (GORAB); Gitelman syndrome (SLC12A3); GLB1-related disorders (GLB1); Glucose-6-phosphate dehydrogenase deficiency (G6PD); Glutaric acidemia, type I (GCDH); Glutathione synthetase deficiency (GSS); 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); Glycogen storage disease, type IXb (PHKB); Glycogen storage disease, type IXc (PHKG2); Glycogen storage disease, type V (PYGM); Glycogen storage disease, type VII (PFKM); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Guanidinoacetate methyltransferase deficiency (GAMT); Heme oxygenase 1 deficiency (HMOX1); Hereditary fructose intolerance (ALDOB); Hereditary hemochromatosis, type 2A (HJV); Hereditary hemochromatosis, type 2B (HAMP); Hereditary hemochromatosis, type 3 (TFR2); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 2 (AP3B1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hermansky-Pudlak syndrome, type 4 (HPS4); Hermansky-Pudlak syndrome, type 5 (HPS5); Hermansky-Pudlak syndrome, type 6 (HPS6); Hermansky-Pudlak syndrome, type 8 (BLOC1S3); Hermansky-Pudlak syndrome, type 9 (BLOC1S6); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR); Homocystinuria, CBS-related (CBS); Homocystinuria, type cblE (MTRR); Homocystinuria-megaloblastic anemia, cblG complementation type (MTR); HPRT1-related disorders (HPRT1); HSD10 disease (HSD17B10); Hydrolethalus syndrome (HYLS1); Hyper-IgM syndrome, type 3 (CD40); Hyperphosphatemic familial tumoral calcinosis (GALNT3); Hypohidrotic ectodermal dysplasia, X-linked (EDA); Hypomyelinating leukodystrophy 12 (VPS11); Hypophosphatasia (ALPL); Ichthyosis prematurity syndrome (SLC27A4); IGHMBP2-related disorders (IGHMBP2); Imerslund-Grsbeck syndrome 2 (AMN); Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B); Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24); Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3); Infantile cerebral and cerebellar atrophy (MED17); Isolated sulfite oxidase deficiency (SUOX); Isovaleric acidemia (IVD); ITGB3-related disorders (ITGB3); Johanson-Blizzard syndrome (UBR1); Joubert syndrome 1 (INPP5E); Joubert syndrome 15 (CEP41); Joubert syndrome 17 (CPLANE1); Joubert syndrome 2 (TMEM216); Joubert syndrome 21 (CSPP1); Joubert syndrome 25 (CEP104); Joubert syndrome 27 (B9D1); Joubert syndrome 3 (AHI1); Joubert syndrome 31 (CEP120); Joubert syndrome 34 (B9D2); Joubert syndrome 8 (ARL13B); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, COL17A1-related (COL17A1); Junctional epidermolysis bullosa, ITGA6-related (ITGA6); Junctional epidermolysis bullosa, ITGB4-related (ITGB4); 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); Laron syndrome (GHR); Leber congenital amaurosis 1 (GUCY2D); Leber congenital amaurosis 13 (RDH12); Leber congenital amaurosis 2 (RPE65); Leber congenital amaurosis 4 (AIPL1); Leber congenital amaurosis 5 (LCA5); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Leukoencephalopathy with vanishing white matter (EIF2B5); 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); LIG4 syndrome (LIG4); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2B (DYSF); 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); Limb-girdle muscular dystrophy, type 5 (SGCG); Limb-girdle muscular dystrophy, type 6 (SGCD); Lipoid congenital adrenal hyperplasia (STAR); Lipoprotein lipase deficiency (LPL); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lowe syndrome, X-linked (OCRL); LRAT-related disorders (LRAT); Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3); Lysinuric protein intolerance (SLC7A7); Lysosomal acid lipase deficiency (LIPA); Malonyl-CoA decarboxylase deficiency (MLYCD); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); MECR-related neurologic disorder (MECR); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); MEDNIK syndrome (AP1S1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Menkes disease (ATP7A); Metachromatic leukodystrophy due to saposin B deficiency (PSAP); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1); Methylmalonic aciduria and homocystinuria, cblX type (HCFC1); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Methylmalonyl-CoA epimerase deficiency (MCEE); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Microcephalic osteodysplastic primordial dwarfism, type II (PCNT); Microphthalmia / Anophthalmia (VSX2); Mitochondrial complex I deficiency, ACAD9-related (ACAD9); Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4); 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 19 (FOXRED1); Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7); Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1); Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6); Mitochondrial complex IV deficiency, nuclear type 12 (PET100); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mitochondrial complex IV deficiency, nuclear type 6 (COX15); Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP); Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB); MKS1-related disorders (MKS1); Molybdenum cofactor deficiency of complementation group A (MOCS1); Molybdenum cofactor deficiency of complementation group B (MOCS2); MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis III gamma (GNPTG); 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 IVA / Morquio syndrome (GALNS); Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Mucopolysaccharidosis, type VII / Sly syndrome (GUSB); Mulibrey nanism (TRIM37); 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); Multiple pterygium syndrome, lethal type (CHRNG); Multiple sulfatase deficiency (SUMF1); Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1); Muscular dystrophy-dystroglycanopathy, type A, 10 (RXYLT1); Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2); Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1); Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1); Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA); Myopathy, lactic acidosis, and sideroblastic anemia (PUS1); Myotonia congenita (CLCN1); N-acetylglutamate synthase deficiency (NAGS); Nemaline myopathy 2 (NEB); Nephrogenic diabetes insipidus type 2 (AQP2); Nephronophthisis 2 (INVS); 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, CTSD-related (CTSD); Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, type C2 (NPC2); 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) 22 (OTOA); Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A); Nonsyndromic hearing loss and deafness (DFNB) 59 (PJVK); Nonsyndromic hearing loss and deafness (DFNB) 7 (TMC1); Nonsyndromic hearing loss and deafness (DFNB) 76 (SYNE4); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Nonsyndromic hearing loss and deafness (DFNB) 8 (TMPRSS3); Nonsyndromic hearing loss and deafness (DFNB) 9 (OTOF); Normophosphatemic familial tumoral calcinosis (SAMD9); NPHP1 nephronophthisis-related ciliopathies (NPHP1); NPHP3 nephronophthisis-related ciliopathies (NPHP3); NPHP4 nephronophthisis-related ciliopathies (NPHP4); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Oculocutaneous albinism, type III (TYRP1); Oculocutaneous albinism, type IV (SLC45A2); Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A); Omenn syndrome (DCLRE1C); Ornithine aminotransferase deficiency (OAT); Ornithine transcarbamylase deficiency, X-linked (OTC); Ornithine translocase deficiency (SLC25A15); Orofaciodigital syndrome, type XIV (C2CD3); Osteogenesis imperfecta, type VII (CRTAP); Osteogenesis imperfecta, type VIII (P3H1); Osteogenesis imperfecta, type XI (FKBP10); Osteogenesis imperfecta, type XIII (BMP1); Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1); Osteopetrosis, OSTM1-related (OSTM1); Pantothenate kinase-associated neurodegeneration (PKAN) (PANK2); Parkinson disease 15 (FBXO7); Pendred syndrome (SLC26A4); Perlman syndrome (DIS3L2); Peroxisomal acyl-CoA oxidase deficiency (ACOX1); PGM3-congenital disorder of glycosylation / Immunodeficiency 23 (PGM3); Phenylalanine hydroxylase deficiency (PAH); Phosphoglycerate dehydrogenase deficiency (PHGDH); PIGN-related disorders (PIGN); PLA2G6-associated neurodegeneration (PLA2G6); PLEKHG5-related disorders (PLEKHG5); PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 1A (VRK1); Pontocerebellar hypoplasia, type 1B (EXOSC3); Pontocerebellar hypoplasia, type 2B (TSEN2); Pontocerebellar hypoplasia, type 2E (VPS53); Pontocerebellar hypoplasia, type 6 (RARS2); Pontocerebellar hypoplasia, types 4 and 2A (TSEN54); Primary ciliary dyskinesia, CCDC103-related (CCDC103); Primary ciliary dyskinesia, CCDC39-related (CCDC39); Primary ciliary dyskinesia, DNAH11-related (DNAH11); Primary ciliary dyskinesia, DNAH5-related (DNAH5); Primary ciliary dyskinesia, DNAI1-related (DNAI1); Primary ciliary dyskinesia, DNAI2-related (DNAI2); Primary congenital glaucoma (CYP1B1); Primary hyperoxaluria, type I (AGXT); Primary hyperoxaluria, type II (GRHPR); Primary hyperoxaluria, type III (HOGA1); Progressive cerebello-cerebral atrophy (SEPSECS); Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1); Progressive familial intrahepatic cholestasis 2 (ABCB11); Progressive familial intrahepatic cholestasis 3 (ABCB4); Progressive familial intrahepatic cholestasis 4 (TJP2); Progressive pseudorheumatoid dysplasia (CCN6); Prolidase deficiency (PEPD); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); PRPS1-related disorders (PRPS1); Pseudocholinesterase deficiency (BCHE); Pseudoxanthoma elasticum (ABCC6); Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency (PCBD1); Pycnodysostosis (CTSK); Pyridoxamine 5'-phosphate oxidase deficiency (PNPO); Pyridoxine-dependent epilepsy (ALDH7A1); Pyruvate carboxylase deficiency (PC); Pyruvate dehydrogenase E1-alpha deficiency (PDHA1); Pyruvate dehydrogenase E1-beta deficiency (PDHB); Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2); Refsum disease (PHYH); Renal tubular acidosis (SLC4A4); Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1); Retinitis pigmentosa 2 (RP2); Retinitis pigmentosa 25 (EYS); Retinitis pigmentosa 26 (CERKL); Retinitis pigmentosa 28 (FAM161A); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 36 (PRCD); Retinitis pigmentosa 59 (DHDDS); Retinitis pigmentosa 62 (MAK); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Rhizomelic chondrodysplasia punctata, type 2 (GNPAT); Rhizomelic chondrodysplasia punctata, type 3 (AGPS); RLBP1-related retinopathies (RLBP1); Roberts-SC phocomelia syndrome (ESCO2); RYR1-related disorders (RYR1); Sandhoff disease (HEXB); Schimke immunoosseous dysplasia (SMARCAL1); Schindler disease (NAGA); Senior-Loken syndrome 5 (IQCB1); Sepiapterin reductase deficiency (SPR); Severe combined immunodeficiency, CD3D-related (CD3D); Severe combined immunodeficiency, CD3E-related (CD3E); Severe combined immunodeficiency, FOXN1-related (FOXN1); Severe combined immunodeficiency, IKBKB-related (IKBKB); Severe combined immunodeficiency, IL7R-related (IL7R); Severe combined immunodeficiency, JAK3-related (JAK3); Severe combined immunodeficiency, PTPRC-related (PTPRC); Severe combined immunodeficiency, RAG1-related (RAG1); Severe combined immunodeficiency, RAG2-related (RAG2); Severe combined immunodeficiency, X-linked (IL2RG); Severe congenital neutropenia 5 (VPS45); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Shwachman-Diamond syndrome (SBDS); Sialidosis (NEU1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spastic paraplegia, type 15 (ZFYVE26); Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4); SPG11-related disorders (SPG11); Spinal muscular atrophy (SMN1); Spondylocostal dysostosis 1 (DLL3); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steel syndrome (COL27A1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Steroid-resistant nephrotic syndrome, type 3 (PLCE1); Stuve-Wiedemann syndrome (LIFR); SURF1-related disorders (SURF1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TBCE-related disorders (TBCE); TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2); Thiamine-responsive megaloblastic anemia syndrome (SLC19A2); Thyroid dyshormonogenesis 1 (SLC5A5); Thyroid dyshormonogenesis 2A (TPO); Thyroid dyshormonogenesis 3 (TG); Thyroid dyshormonogenesis 6 (DUOX2); TK2-related mitochondrial disorders (TK2); TMEM67-related disorders (TMEM67); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Transcobalamin II deficiency (TCN2); TREX1-related disorders (TREX1); Trichohepatoenteric syndrome 1 (TTC37); Trichohepatoenteric syndrome 2 (SKIC2); TRIM32-related disorders (TRIM32); Trimethylaminuria (FMO3); Triple A syndrome (AAAS); TULP1-related disorders (TULP1); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Tyrosinemia, type III (HPD); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 1J (CIB2); Usher syndrome, type 2A (USH2A); Usher syndrome, type 2C (ADGRV1); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Vitamin D-resistant rickets, type 2A (VDR); VLDLR-associated cerebellar hypoplasia (VLDLR); Warsaw breakage syndrome (DDX11); Werner syndrome (WRN); Wilson disease (ATP7B); Wiskott-Aldrich syndrome, X-linked (WAS); Wolcott-Rallison syndrome (EIF2AK3); Woodhouse-Sakati syndrome (DCAF17); WWOX deficiency (WWOX); Xeroderma pigmentosum, group A (XPA); Xeroderma pigmentosum, group C (XPC); Xeroderma pigmentosum, variant type (XP-V) (POLH); X-linked agammaglobulinemia (BTK); X-linked chondrodysplasia punctata 1 (ARSL); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked heterotaxy-1 (ZIC3); X-Linked hyper IgM syndrome (CD40LG); X-linked infantile spinal muscular atrophy (UBA1); X-linked myotubular myopathy (MTM1); X-linked Opitz G/BBB syndrome (MID1); 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, PEX1-related (PEX1); Zellweger spectrum disorders, PEX26-related (PEX26); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX5-related (PEX5); 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 611 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3); 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2); 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3); 5-alpha-reductase deficiency (SRD5A2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); ABCA4-related disorders (ABCA4); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Acrodermatitis enteropathica (SLC39A4); Action myoclonus renal failure syndrome (SCARB2); Acute infantile liver failure (TRMU); ADAMTSL4-related eye disorders (ADAMTSL4); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Aicardi-Goutieres syndrome 3 (RNASEH2C); Aicardi-Goutieres syndrome 4 (RNASEH2A); Aicardi-Goutieres syndrome 5 (SAMHD1); Alkaptonuria (HGD); Alpha-1 antitrypsin deficiency (SERPINA1); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alpha-thalassemia intellectual disability syndrome, X-linked (ATRX); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Alstrom syndrome (ALMS1); Amish infantile epilepsy syndrome (ST3GAL5); Androgen insensitivity syndrome (AR); Arginine:glycine amidinotransferase deficiency (GATM); Argininemia (ARG1); Argininosuccinic aciduria (ASL); Aromatase deficiency (CYP19A1); Arthrogryposis, mental retardation, and seizures (SLC35A3); Asparagine synthetase deficiency (ASNS); Aspartylglycosaminuria (AGA); Ataxia with isolated vitamin E deficiency (TTPA); Ataxia-telangiectasia (ATM); Ataxia-telangiectasia-like disorder 1 (MRE11); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); Autosomal recessive intellectual developmental disorder 3 (CC2D1A); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); AVPR2-related disorders (AVPR2); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 12 (BBS12); Bardet-Biedl syndrome 2 (BBS2); Bardet-Biedl syndrome 3 (ARL6); Bardet-Biedl syndrome 4 (BBS4); Bardet-Biedl syndrome 5 (BBS5); Bardet-Biedl syndrome 6 (MKKS); Bardet-Biedl syndrome 7 (BBS7); Bardet-Biedl syndrome 8 (TTC8); Bardet-Biedl syndrome 9 (BBS9); Bare lymphocyte syndrome, type II (CIITA); Barth syndrome (TAFAZZIN (formerly TAZ)); Bartter syndrome, type 1 (SLC12A1); Bartter syndrome, type 2 (KCNJ1); Bartter syndrome, type 4A (BSND); Bernard-Soulier syndrome, type A (GP1BA); Bernard-Soulier syndrome, type C (GP9); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Beta-mannosidosis (MANBA); Beta-ureidopropionase deficiency (UPB1); Bilateral frontoparietal polymicrogyria (ADGRG1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Brittle cornea syndrome 1 (ZNF469); Brittle cornea syndrome 2 (PRDM5); Canavan disease (ASPA); Carbamoyl phosphate synthetase I deficiency (CPS1); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase I deficiency (CPT1A); Carnitine palmitoyltransferase II deficiency (CPT2); Carnitine-acylcarnitine translocase deficiency (SLC25A20); Carpenter syndrome (RAB23); Cartilage-hair hypoplasia (RMRP); Catecholaminergic polymorphic ventricular tachycardia, type 2 (CASQ2); CD59-mediated hemolytic anemia (CD59); CEP152-related disorders (CEP152); Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome (SNAP29); Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6); Cerebrotendinous xanthomatosis (CYP27A1); Charcot-Marie-Tooth disease, type 1X (GJB1); Charcot-Marie-Tooth disease, type 4D (NDRG1); Chediak-Higashi syndrome (LYST); Choreoacanthocytosis (VPS13A); Choroideremia, X-linked (CHM); Chronic granulomatous disease 2 (NCF2); Chronic granulomatous disease 4 (CYBA); Chronic granulomatous disease, X-linked (CYBB); Ciliopathies, RPGRIP1L-related (RPGRIP1L); Citrin deficiency / Citrullinemia, type II (SLC25A13); Citrullinemia, type I (ASS1); Cockayne syndrome, type A (ERCC8); Cohen syndrome (VPS13B); COL11A2-related disorders (COL11A2); Combined malonic and methylmalonic aciduria (ACSF3); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC); Combined or isolated pituitary hormone deficiency, type 1 (POU1F1); Combined oxidative phosphorylation deficiency 1 (GFM1); Combined oxidative phosphorylation deficiency 3 (TSFM); Combined oxidative phosphorylation deficiency 6 (AIFM1); Combined pituitary hormone deficiency, type 2 (PROP1); Combined pituitary hormone deficiency, type 3 (LHX3); Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1); Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of deglycosylation, type 1 (NGLY1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital disorder of glycosylation, type Ib (MPI); Congenital disorder of glycosylation, type Ic (ALG6); Congenital disorder of glycosylation, type Ik (ALG1); Congenital dyserythropoietic anemia, type II (SEC23B); Congenital hydrocephalus 1 (CCDC88C); Congenital hypothyroidism, TSHB-related (TSHB); Congenital hypothyroidism, TSHR-related (TSHR); Congenital ichthyosis, ABCA12-related (ABCA12); Congenital insensitivity to pain with anhidrosis (NTRK1); Congenital myasthenic syndrome, CHAT-related (CHAT); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Congenital myasthenic syndrome, COLQ-related (COLQ); Congenital myasthenic syndrome, DOK7-related (DOK7); Congenital myasthenic syndrome, MUSK-related (MUSK); Congenital myasthenic syndrome, RAPSN-related (RAPSN); Congenital neutropenia, HAX1-related (HAX1); Congenital secretory chloride diarrhea 1 (SLC26A3); Corneal dystrophy and perceptive deafness syndrome (SLC4A11); Corticosterone methyloxidase deficiency (CYP11B2); CRB1-related retinal dystrophies (CRB1); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); CTSC-related disorders (CTSC); CYP7B1-related disorders (CYP7B1); Cystic fibrosis (CFTR); Cystinosis (CTNS); Cytochrome P450 oxidoreductase deficiency (POR); D-bifunctional protein deficiency (HSD17B4); DCX-related disorders (DCX); Dent disease 1 (CLCN5); Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 (DGUOK); Desbuquois dysplasia, type I (CANT1); Developmental and epileptic encephalopathy 36 (ALG13); Developmental and epileptic encephalopathy 50 (CAD); DGAT1 deficiency (DGAT1); Dihydrolipoamide dehydrogenase deficiency (DLD); Dihydropteridine reductase (DHPR) deficiency (QDPR); Dihydropyrimidine dehydrogenase deficiency (DPYD); Donnai-Barrow syndrome (LRP2); Dubin-Johnson syndrome (ABCC2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dyskeratosis congenita spectrum disorders (TERT); Dyskeratosis congenita, RTEL1-related (RTEL1); Dyskeratosis congenita, X-linked (DKC1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (TBCD); Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2); Ellis-van Creveld syndrome (EVC); Ellis-van Creveld syndrome (EVC2); Emery-Dreifuss muscular dystrophy, X-linked (EMD); Enhanced S-cone syndrome (NR2E3); EPG5-related disorder (EPG5); ERCC2-related conditions (ERCC2); Ethylmalonic encephalopathy (ETHE1); Fabry disease, X-linked (GLA); Factor II deficiency / Prothrombin deficiency (F2); Factor IX deficiency / Hemophilia B (F9); Factor V deficiency (F5); Factor XI deficiency / Hemophilia C (F11); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hemophagocytic lymphohistiocytosis 3 (UNC13D); Familial hemophagocytic lymphohistiocytosis 4 (STX11); Familial hemophagocytic lymphohistiocytosis 5 (STXBP2); Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1); Familial hypercholesterolemia, LDLR-related (LDLR); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group B (FANCB); 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 J (BRIP1); Fanconi anemia, complementation group L (FANCL); Farber lipogranulomatosis (ASAH1); FHL1-related disorders (FHL1); Foveal hypoplasia 2 (SLC38A8); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 1 (FRAS1); Fraser syndrome, type 2 (FREM2); Fraser syndrome, type 3 (GRIP1); Free sialic acid storage disorders (SLC17A5); Friedreich ataxia (FXN); Fructose-1,6-bisphosphatase deficiency (FBP1); Fucosidosis (FUCA1); Fukuyama congenital muscular dystrophy (FKTN); Fumarase deficiency (FH); G6PC3 deficiency (G6PC3); GABA-transaminase deficiency (ABAT); Galactosemia (GALT); Galactosemia, type II / Galactokinase deficiency (GALK1); Galactosemia, type III / Galactose epimerase deficiency (GALE); Galactosialidosis (CTSA); Gaucher disease (GBA); GCH1-related disorders (GCH1); GDF5-related disorders (GDF5); Geroderma osteodysplastica (GORAB); Gitelman syndrome (SLC12A3); GLB1-related disorders (GLB1); Glucose-6-phosphate dehydrogenase deficiency (G6PD); Glutaric acidemia, type I (GCDH); Glutathione synthetase deficiency (GSS); 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); Glycogen storage disease, type IXb (PHKB); Glycogen storage disease, type IXc (PHKG2); Glycogen storage disease, type V (PYGM); Glycogen storage disease, type VII (PFKM); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Guanidinoacetate methyltransferase deficiency (GAMT); Heme oxygenase 1 deficiency (HMOX1); Hereditary fructose intolerance (ALDOB); Hereditary hemochromatosis, type 2A (HJV); Hereditary hemochromatosis, type 2B (HAMP); Hereditary hemochromatosis, type 3 (TFR2); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 2 (AP3B1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hermansky-Pudlak syndrome, type 4 (HPS4); Hermansky-Pudlak syndrome, type 5 (HPS5); Hermansky-Pudlak syndrome, type 6 (HPS6); Hermansky-Pudlak syndrome, type 8 (BLOC1S3); Hermansky-Pudlak syndrome, type 9 (BLOC1S6); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR); Homocystinuria, CBS-related (CBS); Homocystinuria, type cblE (MTRR); Homocystinuria-megaloblastic anemia, cblG complementation type (MTR); HPRT1-related disorders (HPRT1); HSD10 disease (HSD17B10); Hydrolethalus syndrome (HYLS1); Hyper-IgM syndrome, type 3 (CD40); Hyperphosphatemic familial tumoral calcinosis (GALNT3); Hypohidrotic ectodermal dysplasia, X-linked (EDA); Hypomyelinating leukodystrophy 12 (VPS11); Hypophosphatasia (ALPL); Ichthyosis prematurity syndrome (SLC27A4); IGHMBP2-related disorders (IGHMBP2); Imerslund-Grsbeck syndrome 2 (AMN); Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B); Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24); Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3); Infantile cerebral and cerebellar atrophy (MED17); Isolated sulfite oxidase deficiency (SUOX); Isovaleric acidemia (IVD); ITGB3-related disorders (ITGB3); Johanson-Blizzard syndrome (UBR1); Joubert syndrome 1 (INPP5E); Joubert syndrome 15 (CEP41); Joubert syndrome 17 (CPLANE1); Joubert syndrome 2 (TMEM216); Joubert syndrome 21 (CSPP1); Joubert syndrome 25 (CEP104); Joubert syndrome 27 (B9D1); Joubert syndrome 3 (AHI1); Joubert syndrome 31 (CEP120); Joubert syndrome 34 (B9D2); Joubert syndrome 8 (ARL13B); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, COL17A1-related (COL17A1); Junctional epidermolysis bullosa, ITGA6-related (ITGA6); Junctional epidermolysis bullosa, ITGB4-related (ITGB4); 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); Laron syndrome (GHR); Leber congenital amaurosis 1 (GUCY2D); Leber congenital amaurosis 13 (RDH12); Leber congenital amaurosis 2 (RPE65); Leber congenital amaurosis 4 (AIPL1); Leber congenital amaurosis 5 (LCA5); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Leukoencephalopathy with vanishing white matter (EIF2B5); 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); LIG4 syndrome (LIG4); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2B (DYSF); 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); Limb-girdle muscular dystrophy, type 5 (SGCG); Limb-girdle muscular dystrophy, type 6 (SGCD); Lipoid congenital adrenal hyperplasia (STAR); Lipoprotein lipase deficiency (LPL); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lowe syndrome, X-linked (OCRL); LRAT-related disorders (LRAT); Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3); Lysinuric protein intolerance (SLC7A7); Lysosomal acid lipase deficiency (LIPA); Malonyl-CoA decarboxylase deficiency (MLYCD); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); MECR-related neurologic disorder (MECR); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); MEDNIK syndrome (AP1S1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Menkes disease (ATP7A); Metachromatic leukodystrophy due to saposin B deficiency (PSAP); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1); Methylmalonic aciduria and homocystinuria, cblX type (HCFC1); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Methylmalonyl-CoA epimerase deficiency (MCEE); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Microcephalic osteodysplastic primordial dwarfism, type II (PCNT); Microphthalmia / Anophthalmia (VSX2); Mitochondrial complex I deficiency, ACAD9-related (ACAD9); Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4); 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 19 (FOXRED1); Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7); Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1); Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6); Mitochondrial complex IV deficiency, nuclear type 12 (PET100); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mitochondrial complex IV deficiency, nuclear type 6 (COX15); Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP); Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB); MKS1-related disorders (MKS1); Molybdenum cofactor deficiency of complementation group A (MOCS1); Molybdenum cofactor deficiency of complementation group B (MOCS2); MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis III gamma (GNPTG); 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 IVA / Morquio syndrome (GALNS); Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Mucopolysaccharidosis, type VII / Sly syndrome (GUSB); Mulibrey nanism (TRIM37); 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); Multiple pterygium syndrome, lethal type (CHRNG); Multiple sulfatase deficiency (SUMF1); Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1); Muscular dystrophy-dystroglycanopathy, type A, 10 (RXYLT1); Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2); Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1); Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1); Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA); Myopathy, lactic acidosis, and sideroblastic anemia (PUS1); Myotonia congenita (CLCN1); N-acetylglutamate synthase deficiency (NAGS); Nemaline myopathy 2 (NEB); Nephrogenic diabetes insipidus type 2 (AQP2); Nephronophthisis 2 (INVS); 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, CTSD-related (CTSD); Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, type C2 (NPC2); 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) 22 (OTOA); Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A); Nonsyndromic hearing loss and deafness (DFNB) 59 (PJVK); Nonsyndromic hearing loss and deafness (DFNB) 7 (TMC1); Nonsyndromic hearing loss and deafness (DFNB) 76 (SYNE4); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Nonsyndromic hearing loss and deafness (DFNB) 8 (TMPRSS3); Nonsyndromic hearing loss and deafness (DFNB) 9 (OTOF); Normophosphatemic familial tumoral calcinosis (SAMD9); NPHP1 nephronophthisis-related ciliopathies (NPHP1); NPHP3 nephronophthisis-related ciliopathies (NPHP3); NPHP4 nephronophthisis-related ciliopathies (NPHP4); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Oculocutaneous albinism, type III (TYRP1); Oculocutaneous albinism, type IV (SLC45A2); Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A); Omenn syndrome (DCLRE1C); Ornithine aminotransferase deficiency (OAT); Ornithine transcarbamylase deficiency, X-linked (OTC); Ornithine translocase deficiency (SLC25A15); Orofaciodigital syndrome, type XIV (C2CD3); Osteogenesis imperfecta, type VII (CRTAP); Osteogenesis imperfecta, type VIII (P3H1); Osteogenesis imperfecta, type XI (FKBP10); Osteogenesis imperfecta, type XIII (BMP1); Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1); Osteopetrosis, OSTM1-related (OSTM1); Pantothenate kinase-associated neurodegeneration (PKAN) (PANK2); Parkinson disease 15 (FBXO7); Pendred syndrome (SLC26A4); Perlman syndrome (DIS3L2); Peroxisomal acyl-CoA oxidase deficiency (ACOX1); PGM3-congenital disorder of glycosylation / Immunodeficiency 23 (PGM3); Phenylalanine hydroxylase deficiency (PAH); Phosphoglycerate dehydrogenase deficiency (PHGDH); PIGN-related disorders (PIGN); PLA2G6-associated neurodegeneration (PLA2G6); PLEKHG5-related disorders (PLEKHG5); PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 1A (VRK1); Pontocerebellar hypoplasia, type 1B (EXOSC3); Pontocerebellar hypoplasia, type 2B (TSEN2); Pontocerebellar hypoplasia, type 2E (VPS53); Pontocerebellar hypoplasia, type 6 (RARS2); Pontocerebellar hypoplasia, types 4 and 2A (TSEN54); Primary ciliary dyskinesia, CCDC103-related (CCDC103); Primary ciliary dyskinesia, CCDC39-related (CCDC39); Primary ciliary dyskinesia, DNAH11-related (DNAH11); Primary ciliary dyskinesia, DNAH5-related (DNAH5); Primary ciliary dyskinesia, DNAI1-related (DNAI1); Primary ciliary dyskinesia, DNAI2-related (DNAI2); Primary congenital glaucoma (CYP1B1); Primary hyperoxaluria, type I (AGXT); Primary hyperoxaluria, type II (GRHPR); Primary hyperoxaluria, type III (HOGA1); Progressive cerebello-cerebral atrophy (SEPSECS); Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1); Progressive familial intrahepatic cholestasis 2 (ABCB11); Progressive familial intrahepatic cholestasis 3 (ABCB4); Progressive familial intrahepatic cholestasis 4 (TJP2); Progressive pseudorheumatoid dysplasia (CCN6); Prolidase deficiency (PEPD); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); PRPS1-related disorders (PRPS1); Pseudocholinesterase deficiency (BCHE); Pseudoxanthoma elasticum (ABCC6); Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency (PCBD1); Pycnodysostosis (CTSK); Pyridoxamine 5'-phosphate oxidase deficiency (PNPO); Pyridoxine-dependent epilepsy (ALDH7A1); Pyruvate carboxylase deficiency (PC); Pyruvate dehydrogenase E1-alpha deficiency (PDHA1); Pyruvate dehydrogenase E1-beta deficiency (PDHB); Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2); Refsum disease (PHYH); Renal tubular acidosis (SLC4A4); Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1); Retinitis pigmentosa 2 (RP2); Retinitis pigmentosa 25 (EYS); Retinitis pigmentosa 26 (CERKL); Retinitis pigmentosa 28 (FAM161A); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 36 (PRCD); Retinitis pigmentosa 59 (DHDDS); Retinitis pigmentosa 62 (MAK); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Rhizomelic chondrodysplasia punctata, type 2 (GNPAT); Rhizomelic chondrodysplasia punctata, type 3 (AGPS); RLBP1-related retinopathies (RLBP1); Roberts-SC phocomelia syndrome (ESCO2); RYR1-related disorders (RYR1); Sandhoff disease (HEXB); Schimke immunoosseous dysplasia (SMARCAL1); Schindler disease (NAGA); Senior-Loken syndrome 5 (IQCB1); Sepiapterin reductase deficiency (SPR); Severe combined immunodeficiency, CD3D-related (CD3D); Severe combined immunodeficiency, CD3E-related (CD3E); Severe combined immunodeficiency, FOXN1-related (FOXN1); Severe combined immunodeficiency, IKBKB-related (IKBKB); Severe combined immunodeficiency, IL7R-related (IL7R); Severe combined immunodeficiency, JAK3-related (JAK3); Severe combined immunodeficiency, PTPRC-related (PTPRC); Severe combined immunodeficiency, RAG1-related (RAG1); Severe combined immunodeficiency, RAG2-related (RAG2); Severe combined immunodeficiency, X-linked (IL2RG); Severe congenital neutropenia 5 (VPS45); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Shwachman-Diamond syndrome (SBDS); Sialidosis (NEU1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spastic paraplegia, type 15 (ZFYVE26); Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4); SPG11-related disorders (SPG11); Spinal muscular atrophy (SMN1); Spondylocostal dysostosis 1 (DLL3); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steel syndrome (COL27A1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Steroid-resistant nephrotic syndrome, type 3 (PLCE1); Stuve-Wiedemann syndrome (LIFR); SURF1-related disorders (SURF1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TBCE-related disorders (TBCE); TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2); Thiamine-responsive megaloblastic anemia syndrome (SLC19A2); Thyroid dyshormonogenesis 1 (SLC5A5); Thyroid dyshormonogenesis 2A (TPO); Thyroid dyshormonogenesis 3 (TG); Thyroid dyshormonogenesis 6 (DUOX2); TK2-related mitochondrial disorders (TK2); TMEM67-related disorders (TMEM67); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Transcobalamin II deficiency (TCN2); TREX1-related disorders (TREX1); Trichohepatoenteric syndrome 1 (TTC37); Trichohepatoenteric syndrome 2 (SKIC2); TRIM32-related disorders (TRIM32); Trimethylaminuria (FMO3); Triple A syndrome (AAAS); TULP1-related disorders (TULP1); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Tyrosinemia, type III (HPD); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 1J (CIB2); Usher syndrome, type 2A (USH2A); Usher syndrome, type 2C (ADGRV1); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Vitamin D-resistant rickets, type 2A (VDR); VLDLR-associated cerebellar hypoplasia (VLDLR); Warsaw breakage syndrome (DDX11); Werner syndrome (WRN); Wilson disease (ATP7B); Wiskott-Aldrich syndrome, X-linked (WAS); Wolcott-Rallison syndrome (EIF2AK3); Woodhouse-Sakati syndrome (DCAF17); WWOX deficiency (WWOX); Xeroderma pigmentosum, group A (XPA); Xeroderma pigmentosum, group C (XPC); Xeroderma pigmentosum, variant type (XP-V) (POLH); X-linked agammaglobulinemia (BTK); X-linked chondrodysplasia punctata 1 (ARSL); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked heterotaxy-1 (ZIC3); X-Linked hyper IgM syndrome (CD40LG); X-linked infantile spinal muscular atrophy (UBA1); X-linked myotubular myopathy (MTM1); X-linked Opitz G/BBB syndrome (MID1); 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, PEX1-related (PEX1); Zellweger spectrum disorders, PEX26-related (PEX26); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX5-related (PEX5); 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
