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QHerit™ 421 Diseases, Female
Test Code12593
CPT Codes
81443, 81243
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
10 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL
Instructions
Patient's gender is required.
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.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
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.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
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
Methodology
NGS, Sanger Sequencing, and Polymerase Chain Reaction w/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
Sets up 6 days a week.
Clinical Significance
This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows carrier screening 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; this large panel may be particularly useful in the pre-conception or fertility setting. 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 case with a Quest Genetic Counselor.
This test analyzes genes associated with 421 conditions including the 150 conditions included in QHerit™ Extended carrier screen. Conditions included in this panel include: 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) ; 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia, CNGB3-related (CNGB3) ; Acrodermatitis enteropathica (SLC39A4) ; Action myoclonus renal failure syndrome (SCARB2) ; Acute infantile liver failure (TRMU) ; 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) ; 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) ; 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) ; Autoimmune polyglandular syndrome, type 1 (AIRE) ; Autosomal recessive congenital ichthyosis 1 (TGM1) ; Autosomal recessive polycystic kidney disease (PKHD1) ; 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 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) ; 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-ureidopropionase deficiency (UPB1) ; Bilateral frontoparietal polymicrogyria (ADGRG1) ; Biotinidase deficiency (BTD) ; Bloom syndrome (BLM) ; 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) ; CEP290-related conditions (CEP290) ; 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) ; Cholestasis, progressive familial intrahepatic 4 (TJP2) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-linked (CHM) ; 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) ; 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 oxidative phosphorylation deficiency 1 (GFM1) ; Combined oxidative phosphorylation deficiency 3 (TSFM) ; Combined oxidative phosphorylation deficiency 6 (AIFM1) ; Combined pituitary hormone deficiency 3 (LHX3) ; Combined pituitary hormone deficiency, type 2 (PROP1) ; 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 amegakaryocytic thrombocytopenia (MPL) ; Congenital disorder of glycosylation, type Ia (PMM2) ; Congenital disorder of glycosylation, type Ib (MPI) ; Congenital disorder of glycosylation, type Ic (ALG6) ; Congenital ichthyosis, ABCA12-related (ABCA12) ; Congenital insensitivity to pain with anhidrosis (NTRK1) ; Congenital muscular dystrophy-dystroglycanopathy 1 (POMT1) ; Congenital myasthenic syndrome, CHAT-related (CHAT) ; Congenital myasthenic syndrome, CHRNE-related (CHRNE) ; Congenital myasthenic syndrome, DOK7-related (DOK7) ; Congenital myasthenic syndrome, RAPSN-related (RAPSN) ; Congenital neutropenia, HAX1-related (HAX1) ; 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) ; Cystic fibrosis (CFTR) ; Cystinosis (CTNS) ; D-bifunctional protein deficiency (HSD17B4) ; DCX-related disorders (DCX) ; Dent disease (CLCN5) ; Desbuquois dysplasia, type I (CANT1) ; Dihydrolipoamide dehydrogenase deficiency (DLD) ; Dihydropyrimidine dehydrogenase deficiency (DPYD) ; Duchenne/Becker muscular dystrophy, X-linked (DMD) ; Dyskeratosis congenita, RTEL1-related (RTEL1) ; Dyskeratosis congenita, X-linked (DKC1) ; Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1) ; 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) ; ERCC2-related conditions (ERCC2) ; Ethylmalonic encephalopathy (ETHE1) ; Fabry disease, X-linked (GLA) ; Factor IX deficiency / Hemophilia B (F9) ; Factor XI deficiency / Hemophilia C (F11) ; Familial dysautonomia (ELP1) ; Familial hemophagocytic lymphohistiocytosis 2 (PRF1) ; Familial hemophagocytic lymphohistiocytosis 4 (STX11) ; Familial hemophagocytic lymphohistiocytosis 5 (STXBP2) ; Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1) ; Familial hypercholesterolemia, LDLR-related (LDLR) ; Familial hyperinsulinism, KCNJ11-related (KCNJ11) ; Familial hyperinsulinism, ABCC8-related (ABCC8) ; Familial Mediterranean fever (MEFV) ; Fanconi anemia, Group A (FANCA) ; Fanconi anemia, Group B (FANCB) ; Fanconi anemia, Group C (FANCC) ; Fanconi anemia, Group D2 (FANCD2) ; Fanconi anemia, Group E (FANCE) ; Fanconi anemia, Group F (FANCF) ; Fanconi anemia, Group G (FANCG) ; Fanconi anemia, Group I (FANCI) ; Fanconi anemia, Group L (FANCL) ; Farber lipogranulomatosis (ASAH1) ; Fragile X syndrome (FMR1) ; Free sialic acid storage disorders (SLC17A5) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarate hydratase deficiency (FH) ; GABA-transaminase deficiency (ABAT) ; Galactosemia (GALT) ; Galactosemia, type II / Galactokinase deficiency (GALK1) ; Galactosialidosis (CTSA) ; Gaucher disease (GBA) ; Gitelman syndrome (SLC12A3) ; GLB1-related disorders (GLB1) ; Glucose-6-phosphate dehydrogenase deficiency (G6PD) ; Glutaric acidemia, type I (GCDH) ; Glycine encephalopathy / nonketotic hyperglycinemia (GLDC) ; Glycine encephalopathy, AMT-related (AMT) ; Glycogen storage disease, type Ia (G6PC) ; 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 V (PYGM) ; Glycogen storage disease, type VII (PFKM) ; GNE myopathy (GNE) ; GRACILE syndrome (BCS1L) ; Guanidinoacetate methyltransferase deficiency (GAMT) ; Hereditary fructose intolerance (ALDOB) ; Hereditary hemochromatosis, type 2 (HJV) ; Hereditary hemochromatosis, type 3 (TFR2) ; Hermansky-Pudlak syndrome, type 2 (AP3B1) ; Hermansky-Pudlak syndrome, type 1 (HPS1) ; Hermansky-Pudlak syndrome, type 3 (HPS3) ; Hermansky-Pudlak syndrome, type 4 (HPS4) ; Holocarboxylase synthetase deficiency (HLCS) ; Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR) ; Homocystinuria, CBS-related (CBS) ; Homocystinuria, type cblE (MTRR) ; HPRT1-related disorders (HPRT1) ; Hydrolethalus syndrome (HYLS1) ; Hyperphosphatemic familial tumoral calcinosis (GALNT3) ; Hypohidrotic ectodermal dysplasia, X-linked (EDA) ; Hypophosphatasia (ALPL) ; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3) ; Infantile cerebral and cerebellar atrophy (MED17) ; Isovaleric acidemia (IVD) ; 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, 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 13 (RDH12) ; Leber congenital amaurosis 2 (RPE65) ; Leber congenital amaurosis 5 (LCA5) ; Lethal congenital contracture syndrome 1 (GLE1) ; Leukoencephalopathy with vanishing white matter (EIF2B5) ; Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy 5 (FKRP) ; Limb-girdle muscular dystrophy, type 2A (CAPN3) ; Limb-girdle muscular dystrophy, type 2B (DYSF) ; 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) ; 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) ; 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, MMAA-related (MMAA) ; Methylmalonic aciduria, MMAB-related (MMAB) ; Methylmalonic aciduria, MUT-related (MMUT) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial complex I deficiency, ACAD9-related (ACAD9) ; Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4) ; Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5) ; Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6) ; Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6) ; Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC) ; Mitochondrial complex IV deficiency, nuclear type 12 (PET100) ; Mitochondrial neurogastrointestinal encephalopathy (TYMP) ; Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB) ; MKS1-related disorders (MKS1) ; Molybdenum cofactor deficiency of complementation group A (MOCS1) ; MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17) ; Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB) ; Mucolipidosis III gamma (GNPTG) ; Mucolipidosis, type IV (MCOLN1) ; Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS) ; Mucopolysaccharidosis, type VII / Sly syndrome (GUSB) ; 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 IVA / Morquio syndrome (GALNS) ; Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1) ; Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB) ; Mulibrey nanism (TRIM37) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFDH) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFB) ; Multiple pterygium syndrome, lethal type (CHRNG) ; Multiple sulfatase deficiency (SUMF1) ; Muscular dystrophy-dystroglycanopathy 2 (POMT2) ; Muscular dystrophy-dystroglycanopathy 3 (POMGNT1) ; Muscular dystrophy-dystroglycanopathy 6 (LARGE1) ; Muscular dystrophy-dystroglycanopathy 7 (CRPPA) ; Congenital myasthenic syndrome, COLQ-related (COLQ) ; Myopathy, lactic acidosis, and sideroblastic anemia (PUS1) ; N-acetylglutamate synthase deficiency (NAGS) ; Nemaline myopathy 2 (NEB) ; Nephrogenic diabetes insipidus (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) 3 (MYO15A) ; Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1) ; NPHP1 nephronophthisis-related ciliopathies (NPHP1) ; NPHP3 nephronophthisis-related ciliopathies (NPHP3) ; NPHP4 nephronophthisis-related ciliopathies (NPHP4) ; 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 XIV (C2CD3) ; Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1) ; Pendred syndrome (SLC26A4) ; Perlman syndrome (DIS3L2) ; Peroxisomal acyl-CoA oxidase deficiency (ACOX1) ; Phenylalanine hydroxylase deficiency (PAH) ; Phosphoglycerate dehydrogenase deficiency (PHGDH) ; PLA2G6-associated neurodegeneration (PLA2G6) ; POLG-related disorders (POLG) ; Pontocerebellar hypoplasia (EXOSC3) ; Pontocerebellar hypoplasia, type 6 (RARS2) ; Pontocerebellar hypoplasia, type 1A (VRK1) ; Pontocerebellar hypoplasia, type 2B (TSEN2) ; Pontocerebellar hypoplasia, type 2E (VPS53) ; Pontocerebellar hypoplasia, type 4 and 2A (TSEN54) ; 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 (PFIC1) and benign familial intrahepatic cholestasis 1 (BRIC1) (ATP8B1) ; Progressive familial intrahepatic cholestastasis, type 2 (ABCB11) ; Prolidase deficiency (PEPD) ; Propionic acidemia, PCCA-related (PCCA) ; Propionic acidemia, PCCB-related (PCCB) ; PRPS1-related disorders (PRPS1) ; Pseudocholinesterase deficiency (BCHE) ; Pseudoxanthoma elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; 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 25 (EYS) ; Retinitis pigmentosa 26 (CERKL) ; Retinitis pigmentosa 28 (FAM161A) ; Retinitis pigmentosa 59 (DHDDS) ; Rhizomelic chondrodysplasia punctata, type 1 (PEX7) ; Rhizomelic chondrodysplasia punctata, type 2 (GNPAT) ; Rhizomelic chondrodysplasia punctata, type 3 (AGPS) ; Roberts-SC phocomelia syndrome (ESCO2) ; Sandhoff disease (HEXB) ; Schimke immunoosseous dysplasia (SMARCAL1) ; Senior-Loken syndrome 5 (IQCB1) ; Severe combined immunodeficiency, RAG1-related (RAG1) ; Severe combined immunodeficiency, RAG2-related (RAG2) ; Severe combined immunodeficiency, X-linked (IL2RG) ; Severe congenital neutropenia 5 (VPS45) ; Shwachman-Diamond syndrome (SBDS) ; Sialidosis (NEU1) ; Sjogren-Larsson syndrome (ALDH3A2) ; Skeletal dysplasias, 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) ; Spinal muscular atrophy (SMN1) ; 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) ; Tay-Sachs disease (HEXA) ; TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2) ; Trichohepatoenteric syndrome 1 (TTC37) ; Triple A syndrome (AAAS) ; 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 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) ; Werner syndrome (WRN) ; Wilson disease (ATP7B) ; Wiskott-Aldrich syndrome, X-linked (WAS) ; Wolcott-Rallison syndrome (EIF2AK3) ; WWOX deficiency (WWOX) ; Xeroderma pigmentosum, group A (XPA) ; Xeroderma pigmentosum, group C (XPC) ; 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) ; Zellweger spectrum disorders, PEX10-related (PEX10) ; Zellweger spectrum disorders, PEX12-related (PEX12) ; Zellweger spectrum disorders, PEX1-related (PEX1) ; Zellweger spectrum disorders, PEX26-related (PEX26) ; Zellweger spectrum disorders, PEX2-related (PEX2) ; Zellweger spectrum disorders, PEX6-related (PEX6).
This test analyzes genes associated with 421 conditions including the 150 conditions included in QHerit™ Extended carrier screen. Conditions included in this panel include: 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) ; 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia, CNGB3-related (CNGB3) ; Acrodermatitis enteropathica (SLC39A4) ; Action myoclonus renal failure syndrome (SCARB2) ; Acute infantile liver failure (TRMU) ; 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) ; 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) ; 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) ; Autoimmune polyglandular syndrome, type 1 (AIRE) ; Autosomal recessive congenital ichthyosis 1 (TGM1) ; Autosomal recessive polycystic kidney disease (PKHD1) ; 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 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) ; 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-ureidopropionase deficiency (UPB1) ; Bilateral frontoparietal polymicrogyria (ADGRG1) ; Biotinidase deficiency (BTD) ; Bloom syndrome (BLM) ; 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) ; CEP290-related conditions (CEP290) ; 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) ; Cholestasis, progressive familial intrahepatic 4 (TJP2) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-linked (CHM) ; 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) ; 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 oxidative phosphorylation deficiency 1 (GFM1) ; Combined oxidative phosphorylation deficiency 3 (TSFM) ; Combined oxidative phosphorylation deficiency 6 (AIFM1) ; Combined pituitary hormone deficiency 3 (LHX3) ; Combined pituitary hormone deficiency, type 2 (PROP1) ; 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 amegakaryocytic thrombocytopenia (MPL) ; Congenital disorder of glycosylation, type Ia (PMM2) ; Congenital disorder of glycosylation, type Ib (MPI) ; Congenital disorder of glycosylation, type Ic (ALG6) ; Congenital ichthyosis, ABCA12-related (ABCA12) ; Congenital insensitivity to pain with anhidrosis (NTRK1) ; Congenital muscular dystrophy-dystroglycanopathy 1 (POMT1) ; Congenital myasthenic syndrome, CHAT-related (CHAT) ; Congenital myasthenic syndrome, CHRNE-related (CHRNE) ; Congenital myasthenic syndrome, DOK7-related (DOK7) ; Congenital myasthenic syndrome, RAPSN-related (RAPSN) ; Congenital neutropenia, HAX1-related (HAX1) ; 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) ; Cystic fibrosis (CFTR) ; Cystinosis (CTNS) ; D-bifunctional protein deficiency (HSD17B4) ; DCX-related disorders (DCX) ; Dent disease (CLCN5) ; Desbuquois dysplasia, type I (CANT1) ; Dihydrolipoamide dehydrogenase deficiency (DLD) ; Dihydropyrimidine dehydrogenase deficiency (DPYD) ; Duchenne/Becker muscular dystrophy, X-linked (DMD) ; Dyskeratosis congenita, RTEL1-related (RTEL1) ; Dyskeratosis congenita, X-linked (DKC1) ; Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1) ; 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) ; ERCC2-related conditions (ERCC2) ; Ethylmalonic encephalopathy (ETHE1) ; Fabry disease, X-linked (GLA) ; Factor IX deficiency / Hemophilia B (F9) ; Factor XI deficiency / Hemophilia C (F11) ; Familial dysautonomia (ELP1) ; Familial hemophagocytic lymphohistiocytosis 2 (PRF1) ; Familial hemophagocytic lymphohistiocytosis 4 (STX11) ; Familial hemophagocytic lymphohistiocytosis 5 (STXBP2) ; Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1) ; Familial hypercholesterolemia, LDLR-related (LDLR) ; Familial hyperinsulinism, KCNJ11-related (KCNJ11) ; Familial hyperinsulinism, ABCC8-related (ABCC8) ; Familial Mediterranean fever (MEFV) ; Fanconi anemia, Group A (FANCA) ; Fanconi anemia, Group B (FANCB) ; Fanconi anemia, Group C (FANCC) ; Fanconi anemia, Group D2 (FANCD2) ; Fanconi anemia, Group E (FANCE) ; Fanconi anemia, Group F (FANCF) ; Fanconi anemia, Group G (FANCG) ; Fanconi anemia, Group I (FANCI) ; Fanconi anemia, Group L (FANCL) ; Farber lipogranulomatosis (ASAH1) ; Fragile X syndrome (FMR1) ; Free sialic acid storage disorders (SLC17A5) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarate hydratase deficiency (FH) ; GABA-transaminase deficiency (ABAT) ; Galactosemia (GALT) ; Galactosemia, type II / Galactokinase deficiency (GALK1) ; Galactosialidosis (CTSA) ; Gaucher disease (GBA) ; Gitelman syndrome (SLC12A3) ; GLB1-related disorders (GLB1) ; Glucose-6-phosphate dehydrogenase deficiency (G6PD) ; Glutaric acidemia, type I (GCDH) ; Glycine encephalopathy / nonketotic hyperglycinemia (GLDC) ; Glycine encephalopathy, AMT-related (AMT) ; Glycogen storage disease, type Ia (G6PC) ; 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 V (PYGM) ; Glycogen storage disease, type VII (PFKM) ; GNE myopathy (GNE) ; GRACILE syndrome (BCS1L) ; Guanidinoacetate methyltransferase deficiency (GAMT) ; Hereditary fructose intolerance (ALDOB) ; Hereditary hemochromatosis, type 2 (HJV) ; Hereditary hemochromatosis, type 3 (TFR2) ; Hermansky-Pudlak syndrome, type 2 (AP3B1) ; Hermansky-Pudlak syndrome, type 1 (HPS1) ; Hermansky-Pudlak syndrome, type 3 (HPS3) ; Hermansky-Pudlak syndrome, type 4 (HPS4) ; Holocarboxylase synthetase deficiency (HLCS) ; Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR) ; Homocystinuria, CBS-related (CBS) ; Homocystinuria, type cblE (MTRR) ; HPRT1-related disorders (HPRT1) ; Hydrolethalus syndrome (HYLS1) ; Hyperphosphatemic familial tumoral calcinosis (GALNT3) ; Hypohidrotic ectodermal dysplasia, X-linked (EDA) ; Hypophosphatasia (ALPL) ; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3) ; Infantile cerebral and cerebellar atrophy (MED17) ; Isovaleric acidemia (IVD) ; 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, 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 13 (RDH12) ; Leber congenital amaurosis 2 (RPE65) ; Leber congenital amaurosis 5 (LCA5) ; Lethal congenital contracture syndrome 1 (GLE1) ; Leukoencephalopathy with vanishing white matter (EIF2B5) ; Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy 5 (FKRP) ; Limb-girdle muscular dystrophy, type 2A (CAPN3) ; Limb-girdle muscular dystrophy, type 2B (DYSF) ; 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) ; 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) ; 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, MMAA-related (MMAA) ; Methylmalonic aciduria, MMAB-related (MMAB) ; Methylmalonic aciduria, MUT-related (MMUT) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial complex I deficiency, ACAD9-related (ACAD9) ; Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4) ; Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5) ; Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6) ; Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6) ; Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC) ; Mitochondrial complex IV deficiency, nuclear type 12 (PET100) ; Mitochondrial neurogastrointestinal encephalopathy (TYMP) ; Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB) ; MKS1-related disorders (MKS1) ; Molybdenum cofactor deficiency of complementation group A (MOCS1) ; MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17) ; Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB) ; Mucolipidosis III gamma (GNPTG) ; Mucolipidosis, type IV (MCOLN1) ; Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS) ; Mucopolysaccharidosis, type VII / Sly syndrome (GUSB) ; 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 IVA / Morquio syndrome (GALNS) ; Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1) ; Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB) ; Mulibrey nanism (TRIM37) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFDH) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFB) ; Multiple pterygium syndrome, lethal type (CHRNG) ; Multiple sulfatase deficiency (SUMF1) ; Muscular dystrophy-dystroglycanopathy 2 (POMT2) ; Muscular dystrophy-dystroglycanopathy 3 (POMGNT1) ; Muscular dystrophy-dystroglycanopathy 6 (LARGE1) ; Muscular dystrophy-dystroglycanopathy 7 (CRPPA) ; Congenital myasthenic syndrome, COLQ-related (COLQ) ; Myopathy, lactic acidosis, and sideroblastic anemia (PUS1) ; N-acetylglutamate synthase deficiency (NAGS) ; Nemaline myopathy 2 (NEB) ; Nephrogenic diabetes insipidus (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) 3 (MYO15A) ; Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1) ; NPHP1 nephronophthisis-related ciliopathies (NPHP1) ; NPHP3 nephronophthisis-related ciliopathies (NPHP3) ; NPHP4 nephronophthisis-related ciliopathies (NPHP4) ; 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 XIV (C2CD3) ; Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1) ; Pendred syndrome (SLC26A4) ; Perlman syndrome (DIS3L2) ; Peroxisomal acyl-CoA oxidase deficiency (ACOX1) ; Phenylalanine hydroxylase deficiency (PAH) ; Phosphoglycerate dehydrogenase deficiency (PHGDH) ; PLA2G6-associated neurodegeneration (PLA2G6) ; POLG-related disorders (POLG) ; Pontocerebellar hypoplasia (EXOSC3) ; Pontocerebellar hypoplasia, type 6 (RARS2) ; Pontocerebellar hypoplasia, type 1A (VRK1) ; Pontocerebellar hypoplasia, type 2B (TSEN2) ; Pontocerebellar hypoplasia, type 2E (VPS53) ; Pontocerebellar hypoplasia, type 4 and 2A (TSEN54) ; 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 (PFIC1) and benign familial intrahepatic cholestasis 1 (BRIC1) (ATP8B1) ; Progressive familial intrahepatic cholestastasis, type 2 (ABCB11) ; Prolidase deficiency (PEPD) ; Propionic acidemia, PCCA-related (PCCA) ; Propionic acidemia, PCCB-related (PCCB) ; PRPS1-related disorders (PRPS1) ; Pseudocholinesterase deficiency (BCHE) ; Pseudoxanthoma elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; 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 25 (EYS) ; Retinitis pigmentosa 26 (CERKL) ; Retinitis pigmentosa 28 (FAM161A) ; Retinitis pigmentosa 59 (DHDDS) ; Rhizomelic chondrodysplasia punctata, type 1 (PEX7) ; Rhizomelic chondrodysplasia punctata, type 2 (GNPAT) ; Rhizomelic chondrodysplasia punctata, type 3 (AGPS) ; Roberts-SC phocomelia syndrome (ESCO2) ; Sandhoff disease (HEXB) ; Schimke immunoosseous dysplasia (SMARCAL1) ; Senior-Loken syndrome 5 (IQCB1) ; Severe combined immunodeficiency, RAG1-related (RAG1) ; Severe combined immunodeficiency, RAG2-related (RAG2) ; Severe combined immunodeficiency, X-linked (IL2RG) ; Severe congenital neutropenia 5 (VPS45) ; Shwachman-Diamond syndrome (SBDS) ; Sialidosis (NEU1) ; Sjogren-Larsson syndrome (ALDH3A2) ; Skeletal dysplasias, 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) ; Spinal muscular atrophy (SMN1) ; 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) ; Tay-Sachs disease (HEXA) ; TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2) ; Trichohepatoenteric syndrome 1 (TTC37) ; Triple A syndrome (AAAS) ; 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 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) ; Werner syndrome (WRN) ; Wilson disease (ATP7B) ; Wiskott-Aldrich syndrome, X-linked (WAS) ; Wolcott-Rallison syndrome (EIF2AK3) ; WWOX deficiency (WWOX) ; Xeroderma pigmentosum, group A (XPA) ; Xeroderma pigmentosum, group C (XPC) ; 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) ; Zellweger spectrum disorders, PEX10-related (PEX10) ; Zellweger spectrum disorders, PEX12-related (PEX12) ; Zellweger spectrum disorders, PEX1-related (PEX1) ; Zellweger spectrum disorders, PEX26-related (PEX26) ; Zellweger spectrum disorders, PEX2-related (PEX2) ; Zellweger spectrum disorders, PEX6-related (PEX6).
