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QHerit™ 421 Diseases, Female
Test Code12593
CPT Codes
81443, 81243
Preferred Specimen
10 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL
Other Acceptable Specimens
2 mL saliva collected in QHerit At Home Saliva Collection Kit
Instructions
For Quest Referrals Shipping: Ship at room temperature in an insulated container by overnight delivery Monday through Friday. Samples should NOT be shipped on Saturday or the day before or after a holiday to ensure viability. During warmer months, we recommend shipping with cool packs.
When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Patient's gender is required.
When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Patient's gender is required.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Sample exposed to heat
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: 16 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 carrier screening of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 381 Diseases, Male (Test Code 12594). 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 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 3 Deficiency (HSD17B3) ; 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (HSD3B2) ; 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH) ; 3-Ketothiolase Deficiency (ACAT1) ; 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency (MCCC1) ; 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency (MCCC2) ; 3-Methylglutaconic Aciduria, Type 3 (OPA3) ; 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH) ; 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia (CNGB3) ; Acrodermatitis Enteropathica (SLC39A4) ; Action Myoclonus Renal Failure Syndrome (SCARB2) ; Acute Infantile Liver Failure (TRMU) ; Acyl-CoA Oxidase I Deficiency (ACOX1) ; Adenosine Deaminase Deficiency (ADA) ; Adrenoleukodystrophy, X-Linked (ABCD1) ; Agammaglobulinemia, X-Linked (BTK) ; Aicardi-Goutires Syndrome 2 (RNASEH2B) ; Aicardi-Goutires Syndrome 3 (RNASEH2C) ; Aicardi-Goutires Syndrome 4 (RNASEH2A) ; Aicardi-Goutires 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) ; Alport Syndrome (COL4A4) ; Alport Syndrome, X-Linked (COL4A5) ; Alstrom Syndrome (ALMS1) ; Amish Infantile Epilepsy Syndrome (ST3GAL5) ; Andermann Syndrome (SLC12A6) ; Argininemia (ARG1) ; Argininosuccinic Aciduria (ASL) ; Aromatase Deficiency (CYP19A1) ; Arthrogryposis, Mental Retardation, And Seizures (SLC35A3) ; ARTS Syndrome, X-Linked (PRPS1) ; Asparagine Synthetase Deficiency (ASNS) ; Aspartylglycosaminuria (AGA) ; Ataxia With Vitamin E Deficiency (TTPA) ; Ataxia-Telangiectasia (ATM) ; Ataxia-Telangiectasia-Like Disorder (MRE11) ; ATP7A-Related Disorders (Menkes Disease, Occipital Horn Syndrome), X-Linked (ATP7A) ; Autoimmune Polyglandular Syndrome, Type 1 (AIRE) ; Autosomal Recessive Polycystic Kidney Disease (PKHD1) ; Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (SACS) ; 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, X-Linked (TAFAZZIN) ; Bartter Syndrome, Type IV (BSND) ; Bernard-Soulier Syndrome, Type A1 (GP1BA) ; Bernard-Soulier Syndrome, Type C (GP9) ; Beta Hemoglobinopathies (HBB) ; Beta-Ureidopropionase Deficiency (UPB1) ; Bilateral Frontoparietal Polymicrogyria (ADGRG1) ; Biotinidase Deficiency (BTD) ; Bloom Syndrome (BLM) ; Canavan Disease (ASPA) ; Carbamoyl Phosphate Synthetase I Deficiency (CPS1) ; Carnitine Palmitoyltransferase I Deficiency (CPT1A) ; Carnitine Palmitoyltransferase II Deficiency (CPT2) ; Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20) ; Carpenter Syndrome (RAB23) ; Cartilage-Hair Hypoplasia (RMRP) ; Cerebrotendinous Xanthomatosis (CYP27A1) ; Charcot-Marie-Tooth Disease, Type 4D (NDRG1) ; Charcot-Marie-Tooth Disease, X-Linked Type 1 (GJB1) ; Chediak-Higashi Syndrome (LYST) ; Cholestasis, Benign Recurrent Intrahepatic (ATP8B1) ; Cholestasis, Progressive Familial Intrahepatic 4 (TJP2) ; Cholesteryl Ester Storage Disease (LIPA) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-Linked (CHM) ; Chronic Granulomatous Disease, Cytochrome B-Negative (CYBA) ; Chronic Granulomatous, X-Linked (CYBB) ; Ciliopathies, RPGRIP1L-Related (RPGRIP1L) ; Citrin Deficiency (SLC25A13) ; Citrullinemia, Type I (ASS1) ; Cockayne Syndrome Type A (ERCC8) ; Cohen Syndrome (VPS13B) ; Combined Malonic And Methylmalonic Aciduria (ACSF3) ; Combined Oxidative Phosphorylation Deficiency 3 (TSFM) ; Combined Oxidative Phosphorylation Deficiency 4 (GFM1) ; Combined Oxidative Phosphorylation Deficiency 6, X-Linked (AIFM1) ; Combined Pituitary Hormone Deficiency 2 (PROP1) ; Combined Pituitary Hormone Deficiency 3 (LHX3) ; Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency (CYP11B1) ; Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency (CYP17A1) ; Congenital Adrenal Hyperplasia, 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) ; Congenital Insensitivity To Pain With Anhidrosis (CIPA) (NTRK1) ; Congenital Lipoid Adrenal Hyperplasia (STAR) ; Congenital Muscular Dystrophy Type 1A (LAMA2) ; Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 (POMT1) ; Congenital Myasthenic Syndrome (CHAT) ; Congenital Myasthenic Syndrome (CHRNE) ; Congenital Myasthenic Syndrome (DOK7) ; Congenital Myasthenic Syndrome (RAPSN) ; Congenital Neutropenia (HAX1) ; Congenital Neutropenia (VPS45) ; Corneal Dystrophy And Perceptive Deafness Syndrome (SLC4A11) ; Corticosterone Methyloxidase Deficiency (CYP11B2) ; CRASH Syndrome, X-Linked (L1CAM) ; CRB1-Related Retinal Dystrophies (CRB1) ; Creatine Transporter Defect, X-Linked (SLC6A8) ; Cystic Fibrosis (CFTR) ; Cystinosis (CTNS) ; D-Bifunctional Protein Deficiency (HSD17B4) ; De Sanctis-Cacchione Syndrome (ERCC6) ; Deafness, Autosomal Recessive 48 (CIB2) ; Deafness, Autosomal Recessive 77 (LOXHD1) ; Dent Disease, X-Linked (CLCN5) ; Desbuquois Dysplasia, Type I (CANT1) ; Developmental Delay And Microencephaly (SLC1A4) ; Dihydrolipoamide Dehydrogenase Deficiency (DLD) ; Dihydropyrimidine Dehydrogenase Deficiency (DPYD) ; Duchenne / Becker Muscular Dystrophy, X-Linked (DMD) ; Dyskeratosis Congenita (RTEL1) ; Dyskeratosis Congenita, X-Linked (DKC1) ; Dystrophic Epidermolysis Bullosa (COL7A1) ; Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2) ; Ellis-Van Creveld Syndrome (EVC) ; Ellis-Van Creveld Syndrome (EVC2) ; Emery-Dreifuss Muscular Dystrophy, X-Linked (EMD) ; Enhanced S-Cone Syndrome (NR2E3) ; Ethylmalonic Encephalopathy (ETHE1) ; Fabry Disease, X-Linked (GLA) ; Factor XI Deficiency (F11) ; Familial Dysautonomia (ELP1) ; Familial Hemophagocytic Lymphohistiocytosis-2 (PRF1) ; Familial Hemophagocytic Lymphohistiocytosis-4 (STX11) ; Familial Hemophagocytic Lymphohistiocytosis-5 (STXBP2) ; Familial Hypercholesterolemia (LDLR) ; Familial Hypercholesterolemia (LDLRAP1) ; Familial Hyperinsulinism (ABCC8) ; Familial Hyperinsulinism (KCNJ11) ; Familial Mediterranean Fever (MEFV) ; Fanconi Anemia, Type A (FANCA) ; Fanconi Anemia, Type B, X-Linked (FANCB) ; Fanconi Anemia, Type C (FANCC) ; Fanconi Anemia, Type D2 (FANCD2) ; Fanconi Anemia, Type E (FANCE) ; Fanconi Anemia, Type F (FANCF) ; Fanconi Anemia, Type G (FANCL) ; Fanconi Anemia, Type I (FANCI) ; Fanconi Anemia, Type L (FANCL) ; Farber Lipogranulomatosis (ASAH1) ; Fragile X Syndrome (FMR1) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarase Deficiency (FH) ; GABA-Transaminase Deficiency (ABAT) ; Galactokinase Deficiency (GALK1) ; Galactosemia (GALT) ; Galactosialidosis (CTSA) ; Gaucher Disease (GBA) ; Gitelman Syndrome (SLC12A3) ; Glucose-6-Phosphate Dehydrogenase Deficiency, X-Linked (G6PD) ; Glutaric Acidemia, Type I (GCDH) ; Glutaric Acidemia, Type IIA (ETFA) ; Glutaric Acidemia, Type IIB (ETFB) ; Glutaric Acidemia, Type IIC (ETFDH) ; Glycine Encephalopathy (AMT) ; Glycine Encephalopathy (GLDC) ; Glycogen Storage Disease, Type IA (G6PC1) ; Glycogen Storage Disease, Type IB (SLC37A4) ; Glycogen Storage Disease, Type II, Pompe Disease (GAA) ; Glycogen Storage Disease, Type III (AGL) ; Glycogen Storage Disease, Type IV (GBE1) ; Glycogen Storage Disease, Type V (PYGM) ; Glycogen Storage Disease, Type VII (PFKM) ; GM1 Gangliosidosis (GLB1) ; GRACILE Syndrome (BCS1L) ; Guanidinoacetate Methyltransferase Deficiency (GAMT) ; Hemophilia B, X-Linked (F9) ; Hepatocerebral Mitochondrial DNA Depletion Syndrome (MPV17) ; Hereditary Fructose Intolerance (ALDOB) ; Hereditary Hemochromatosis (HJV) ; Hereditary Hemochromatosis (TFR2) ; Hereditary Spastic Paraparesis, Type 49 (TECPR2) ; Hermansky-Pudlak Syndrome (AP3B1) ; Hermansky-Pudlak Syndrome (HPS1) ; Hermansky-Pudlak Syndrome (HPS3) ; Hermansky-Pudlak Syndrome (HPS4) ; HMG-CoA Lyase Deficiency (HMGCL) ; Holocarboxylase Synthetase Deficiency (HLCS) ; Homocystinuria (MTHFR) ; Homocystinuria (CBS) ; Homocystinuria, Type cblE (MTRR) ; HPRT-Related Gout, X-Linked (HPRT1) ; Hydrolethalus Syndrome (HYLS1) ; Hyperphosphatemic Familial Tumoral Calcinosis (GALNT3) ; Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA) ; Hypophosphatasia (ALPL) ; Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked (FOXP3) ; Inclusion Body Myopathy 2 (GNE) ; Infantile Cerebral And Cerebellar Atrophy (MED17) ; Infantile Neuroaxonal Dystrophy 2 (PLA2G6) ; Infantile Spinal Muscular Atrophy, X-Linked (UBA1) ; Isovaleric Acidemia (IVD) ; Johanson-Blizzard Syndrome (UBR1) ; Joubert Syndrome 1 (INPP5E) ; Joubert Syndrome 15 (CEP41) ; 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) ; Junctional Epidermolysis Bullosa (LAMA3) ; Junctional Epidermolysis Bullosa (LAMB3) ; Junctional Epidermolysis Bullosa (LAMC2) ; Juvenile Nephronophthisis (INVS) ; Juvenile Nephronophthisis (NPHP1) ; Juvenile Retinoschisis, X-Linked (RS1) ; Krabbe Disease (GALC) ; Lamellar Ichthyosis, Type I (TGM1) ; Leber Congenital Amaurosis (CEP290) ; Leber Congenital Amaurosis (LCA5) ; Leber Congenital Amaurosis (RPE65) ; Leber Congential Amaurosis (RDH12) ; Leigh Syndrome, French-Canadian (LRPPRC) ; Lethal Congenital Contracture Syndrome 1 (GLE1) ; Leukoencephalopathy With Vanishing White Matter (EIF2B5) ; Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3) ; Limb-Girdle Muscular Dystrophy, Type 2B (DYSF) ; Limb-Girdle Muscular Dystrophy, Type 2C (SGCG) ; Limb-Girdle Muscular Dystrophy, Type 2D (SGCA) ; Limb-Girdle Muscular Dystrophy, Type 2E (SGCB) ; Limb-Girdle Muscular Dystrophy, Type 2F (SGCD) ; Limb-Girdle Muscular Dystrophy, Type 2I (FKRP) ; Lipoprotein Lipase Deficiency (LPL) ; Lissencephaly, X-Linked 2 (ARX) ; Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA) ; Lowe Syndrome, X-Linked (OCRL) ; Lysinuric Protein Intolerance (SLC7A7) ; 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) ; Meckel Syndrome 6 (CC2D2A) ; Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) ; Mednik Syndrome (AP1S1) ; Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC1) ; Metachromatic Leukodystrophy (ARSA) ; Metachromatic Leukodystrophy (PSAP) ; Methylmalonic Aciduria (MMAA) ; Methylmalonic Aciduria (MMAB) ; Methylmalonic Aciduria (MMUT) ; Methylmalonic Aciduria, Type cblC (MMACHC) ; Methylmalonic Aciduria, Type cblD (MMADHC) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial Complex I Deficiency (NDUFAF5) ; Mitochondrial Complex I Deficiency (NDUFS6) ; Mitochondrial Complex I Deficiency, Nuclear Type 1 (NDUFS4) ; Mitochondrial Complex I Deficiency, Nuclear Type 17 (NDUFAF6) ; Mitochondrial Complex IV Deficiency (PET100) ; Mitochondrial Myopathy And Sideroblastic Anemia (PUS1) ; Mitochondrial Trifunctional Protein Deficiency (HADHB) ; MKS1-Related Disorders (MKS1) ; Molybdenum Cofactor Deficiency Of Complementation Group A (MOCS1) ; Mucolipidosis III Gamma (GNPTG) ; Mucolipidosis, Type II / III Alpha / Beta (GNPTAB) ; Mucolipidosis, Type IV (MCOLN1) ; Mucopolysaccharidosis Type I, Hurler Syndrome (IDUA) ; Mucopolysaccharidosis Type II, Hunter Syndrome, X-Linked (IDS) ; Mucopolysaccharidosis Type IIIA, Sanfilippo A (SGSH) ; Mucopolysaccharidosis Type IIIB, Sanfilippo B (NAGLU) ; Mucopolysaccharidosis Type IIIC, Sanfilippo C (HGSNAT) ; Mucopolysaccharidosis Type IIID, Sanfilippo D (GNS) ; Mucopolysaccharidosis Type IVA, Morquio Syndrome (GALNS) ; Mucopolysaccharidosis Type IX, Natowicz Syndrome (HYAL1) ; Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome (ARSB) ; Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB) ; Mulibrey Nanism (TRIM37) ; Multiple Pterygium Syndrome, Lethal Type (CHRNG) ; Multiple Sulfatase Deficiency (SUMF1) ; Muscle-Eye-Brain Disease (POMGNT1) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A6 (LARGE1) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A7 (CRPPA) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B2 (POMT2) ; Myasthenic Syndrome, Congenital, 5 (COLQ) ; Myoneurogastrointestinal Encephalopathy (TYMP) ; Myotubular Myopathy, X-Linked (MTM1) ; N-Acetylglutamate Synthase Deficiency (NAGS) ; Nemaline Myopathy 2 (NEB) ; Nephrogenic Diabetes Insipidus (AQP2) ; Nephrotic Syndrome (PLCE1) ; Nephrotic Syndrome, Type 1, Congenital Finnish Nephrosis (NPHS1) ; Neuronal Ceroid Lipofuscinosis (CLN3) ; Neuronal Ceroid Lipofuscinosis (CLN5) ; Neuronal Ceroid Lipofuscinosis (CLN6) ; Neuronal Ceroid Lipofuscinosis (CLN8) ; Neuronal Ceroid Lipofuscinosis (MFSD8) ; Neuronal Ceroid Lipofuscinosis (PPT1) ; Neuronal Ceroid Lipofuscinosis (TPP1) ; Neuronal Ceroid Lipofuscinosis, CTSD-Related (CTSD) ; Niemann-Pick Disease, Type A / B (SMPD1) ; Niemann-Pick Disease, Type CI / D (NPC1) ; Niemann-Pick Disease, Type CII (NPC2) ; Nijmegen Breakage Syndrome (NBN) ; Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2) ; Nonsyndromic Hearing Loss and Deafness, DFNB3 (MYO15A) ; Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A) ; Omenn Syndrome (DCLRE1C) ; Omenn Syndrome (RAG2) ; Ornithine Aminotransferase Deficiency (OAT) ; Ornithine Transcarbamylase Deficiency, X-Linked (OTC) ; Ornithine Translocase Deficiency (SLC25A15) ; Orofaciodigital Syndrome VI (CPLANE1) ; Orofaciodigital Syndrome XIV (C2CD3) ; Osteopetrosis, Infantile Malignant (TCIRG1) ; Pendred Syndrome (SLC26A4) ; Perlman Syndrome (DIS3L2) ; Peroxisome Biogenesis Disorder 3B (PEX12) ; Phenylketonuria (PAH) ; POLG-Related Disorders (POLG) ; Pontocerebellar Hypoplasia (EXOSC3) ; Pontocerebellar Hypoplasia (RARS2) ; Pontocerebellar Hypoplasia (TSEN2) ; Pontocerebellar Hypoplasia (TSEN54) ; Pontocerebellar Hypoplasia (VPS53) ; Pontocerebellar Hypoplasia (VRK1) ; Primary Ciliary Dyskinesia (DNAH5) ; Primary Ciliary Dyskinesia (DNAI1) ; Primary Ciliary Dyskinesia (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, Type II (ABCB11) ; Prolidase Deficiency (PEPD) ; Propionic Acidemia (PCCA) ; Propionic Acidemia (PCCB) ; Pseudocholinesterase Deficiency (BCHE) ; Pseudoxanthoma Elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; Pyridoxine-Dependent Epilepsy (ALDH7A1) ; Pyruvate Carboxylase Deficiency (PC) ; Pyruvate Dehydrogenase Deficiency (PDHB) ; Pyruvate Dehydrogenase Deficiency, X-Linked (PDHA1) ; Recurrent Metabolic Crises With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration (TANGO2) ; Refsum Disease (PHYH) ; Renal Tubular Acidosis (SLC4A4) ; Renal Tubular Acidosis And Deafness (ATP6V1B1) ; Renal-Hepatic-Pancreatic Dysplasia 1 (NPHP3) ; 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) ; Riboflavin Responsive Complex 1 Deficiency (ACAD9) ; Roberts Syndrome (ESCO2) ; Salla Disease (SLC17A5) ; Sandhoff Disease (HEXB) ; Schimke Immunoosseous Dysplasia (SMARCAL1) ; Senior-Loken Syndrome 4 (NPHP4) ; Senior-Loken Syndrome 5 (IQCB1) ; Severe Combined Immunodeficiency, X-Linked (IL2RG) ; Shwachman-Diamond Syndrome (SBDS) ; Sialidosis, Type II (NEU1) ; Sjogren-Larsson Syndrome (ALDH3A2) ; SLC26A2-Related Skeletal Dysplasias (SLC26A2) ; Smith-Lemli-Opitz Syndrome (DHCR7) ; Spastic Paraplegia Type 15 (ZFYVE26) ; Spinal Muscular Atrophy (SMN1) ; Spinocerebellar Ataxia-12 (WWOX) ; Spondylothoracic Dysostosis (MESP2) ; Steel Syndrome (COL27A1) ; Steroid Resistant Nephrotic Syndrome (NPHS2) ; Stuve-Wiedemann Syndrome (LIFR) ; Systemic Primary Carnitine Deficiency (SLC22A5) ; T Cell-Negative (T-), B Cell-Negative (B-), Natural Killer Cellpositive (NK +) Severe Combined Immunodeficiency (RAG1) ; Tay-Sachs Disease (HEXA) ; Trichohepatoenteric Syndrome 1 (TTC37) ; Trichothiodystrophy 1, Photosensitive (ERCC2) ; Triple A Syndrome (AAAS) ; Tyrosine Hydroxylase Deficiency (TH) ; Tyrosinemia, Type I (FAH) ; Tyrosinemia, Type II (TAT) ; Usher Syndrome, Type 2C (ADGRV1) ; Usher Syndrome, Type IB (MYO7A) ; Usher Syndrome, Type IC (USH1C) ; Usher Syndrome, Type ID (CDH23) ; Usher Syndrome, Type IF (PCDH15) ; Usher Syndrome, Type IIA (USH2A) ; Usher Syndrome, Type IIIA (CLRN1) ; Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) ; Vitamin D-Dependent Rickets, Type I (CYP27B1) ;; Werner Syndrome (WRN) ; Wilson Disease (ATP7B) ; Wiskott-Aldrich Syndrome, X-Linked (WAS) ; Wolcott-Rallison Syndrome; Epiphyseal Dysplasia, Multiple With Early-Onset Diabetes Mellitus (EIF2AK3) ; Xeroderma Pigmentosum, Group A (XPA) ; Xeroderma Pigmentosum, Group C (XPC) ; X-Linked Chondrodysplasia Punctata 1 (ARSL) ; X-Linked Congenital Adrenal Hypoplasia (NR0B1) ; X-Linked Heterotaxy-1 And Multiple Types Of Congenital Heart Defects-1 (ZIC3) ; X-Linked Hyper IgM Syndrome (CD40LG) ; X-Linked Lissencephaly-1 (DCX) ; Zellweger Spectrum Disorders (PEX1) ; Zellweger Spectrum Disorders (PEX2) ; Zellweger Spectrum Disorders (PEX26) ; Zellweger Spectrum Disorders (PEX6) ; Zellweger Spectrum Disorders (PEX10).
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 3 Deficiency (HSD17B3) ; 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (HSD3B2) ; 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH) ; 3-Ketothiolase Deficiency (ACAT1) ; 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency (MCCC1) ; 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency (MCCC2) ; 3-Methylglutaconic Aciduria, Type 3 (OPA3) ; 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH) ; 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia (CNGB3) ; Acrodermatitis Enteropathica (SLC39A4) ; Action Myoclonus Renal Failure Syndrome (SCARB2) ; Acute Infantile Liver Failure (TRMU) ; Acyl-CoA Oxidase I Deficiency (ACOX1) ; Adenosine Deaminase Deficiency (ADA) ; Adrenoleukodystrophy, X-Linked (ABCD1) ; Agammaglobulinemia, X-Linked (BTK) ; Aicardi-Goutires Syndrome 2 (RNASEH2B) ; Aicardi-Goutires Syndrome 3 (RNASEH2C) ; Aicardi-Goutires Syndrome 4 (RNASEH2A) ; Aicardi-Goutires 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) ; Alport Syndrome (COL4A4) ; Alport Syndrome, X-Linked (COL4A5) ; Alstrom Syndrome (ALMS1) ; Amish Infantile Epilepsy Syndrome (ST3GAL5) ; Andermann Syndrome (SLC12A6) ; Argininemia (ARG1) ; Argininosuccinic Aciduria (ASL) ; Aromatase Deficiency (CYP19A1) ; Arthrogryposis, Mental Retardation, And Seizures (SLC35A3) ; ARTS Syndrome, X-Linked (PRPS1) ; Asparagine Synthetase Deficiency (ASNS) ; Aspartylglycosaminuria (AGA) ; Ataxia With Vitamin E Deficiency (TTPA) ; Ataxia-Telangiectasia (ATM) ; Ataxia-Telangiectasia-Like Disorder (MRE11) ; ATP7A-Related Disorders (Menkes Disease, Occipital Horn Syndrome), X-Linked (ATP7A) ; Autoimmune Polyglandular Syndrome, Type 1 (AIRE) ; Autosomal Recessive Polycystic Kidney Disease (PKHD1) ; Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (SACS) ; 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, X-Linked (TAFAZZIN) ; Bartter Syndrome, Type IV (BSND) ; Bernard-Soulier Syndrome, Type A1 (GP1BA) ; Bernard-Soulier Syndrome, Type C (GP9) ; Beta Hemoglobinopathies (HBB) ; Beta-Ureidopropionase Deficiency (UPB1) ; Bilateral Frontoparietal Polymicrogyria (ADGRG1) ; Biotinidase Deficiency (BTD) ; Bloom Syndrome (BLM) ; Canavan Disease (ASPA) ; Carbamoyl Phosphate Synthetase I Deficiency (CPS1) ; Carnitine Palmitoyltransferase I Deficiency (CPT1A) ; Carnitine Palmitoyltransferase II Deficiency (CPT2) ; Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20) ; Carpenter Syndrome (RAB23) ; Cartilage-Hair Hypoplasia (RMRP) ; Cerebrotendinous Xanthomatosis (CYP27A1) ; Charcot-Marie-Tooth Disease, Type 4D (NDRG1) ; Charcot-Marie-Tooth Disease, X-Linked Type 1 (GJB1) ; Chediak-Higashi Syndrome (LYST) ; Cholestasis, Benign Recurrent Intrahepatic (ATP8B1) ; Cholestasis, Progressive Familial Intrahepatic 4 (TJP2) ; Cholesteryl Ester Storage Disease (LIPA) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-Linked (CHM) ; Chronic Granulomatous Disease, Cytochrome B-Negative (CYBA) ; Chronic Granulomatous, X-Linked (CYBB) ; Ciliopathies, RPGRIP1L-Related (RPGRIP1L) ; Citrin Deficiency (SLC25A13) ; Citrullinemia, Type I (ASS1) ; Cockayne Syndrome Type A (ERCC8) ; Cohen Syndrome (VPS13B) ; Combined Malonic And Methylmalonic Aciduria (ACSF3) ; Combined Oxidative Phosphorylation Deficiency 3 (TSFM) ; Combined Oxidative Phosphorylation Deficiency 4 (GFM1) ; Combined Oxidative Phosphorylation Deficiency 6, X-Linked (AIFM1) ; Combined Pituitary Hormone Deficiency 2 (PROP1) ; Combined Pituitary Hormone Deficiency 3 (LHX3) ; Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency (CYP11B1) ; Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency (CYP17A1) ; Congenital Adrenal Hyperplasia, 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) ; Congenital Insensitivity To Pain With Anhidrosis (CIPA) (NTRK1) ; Congenital Lipoid Adrenal Hyperplasia (STAR) ; Congenital Muscular Dystrophy Type 1A (LAMA2) ; Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 (POMT1) ; Congenital Myasthenic Syndrome (CHAT) ; Congenital Myasthenic Syndrome (CHRNE) ; Congenital Myasthenic Syndrome (DOK7) ; Congenital Myasthenic Syndrome (RAPSN) ; Congenital Neutropenia (HAX1) ; Congenital Neutropenia (VPS45) ; Corneal Dystrophy And Perceptive Deafness Syndrome (SLC4A11) ; Corticosterone Methyloxidase Deficiency (CYP11B2) ; CRASH Syndrome, X-Linked (L1CAM) ; CRB1-Related Retinal Dystrophies (CRB1) ; Creatine Transporter Defect, X-Linked (SLC6A8) ; Cystic Fibrosis (CFTR) ; Cystinosis (CTNS) ; D-Bifunctional Protein Deficiency (HSD17B4) ; De Sanctis-Cacchione Syndrome (ERCC6) ; Deafness, Autosomal Recessive 48 (CIB2) ; Deafness, Autosomal Recessive 77 (LOXHD1) ; Dent Disease, X-Linked (CLCN5) ; Desbuquois Dysplasia, Type I (CANT1) ; Developmental Delay And Microencephaly (SLC1A4) ; Dihydrolipoamide Dehydrogenase Deficiency (DLD) ; Dihydropyrimidine Dehydrogenase Deficiency (DPYD) ; Duchenne / Becker Muscular Dystrophy, X-Linked (DMD) ; Dyskeratosis Congenita (RTEL1) ; Dyskeratosis Congenita, X-Linked (DKC1) ; Dystrophic Epidermolysis Bullosa (COL7A1) ; Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2) ; Ellis-Van Creveld Syndrome (EVC) ; Ellis-Van Creveld Syndrome (EVC2) ; Emery-Dreifuss Muscular Dystrophy, X-Linked (EMD) ; Enhanced S-Cone Syndrome (NR2E3) ; Ethylmalonic Encephalopathy (ETHE1) ; Fabry Disease, X-Linked (GLA) ; Factor XI Deficiency (F11) ; Familial Dysautonomia (ELP1) ; Familial Hemophagocytic Lymphohistiocytosis-2 (PRF1) ; Familial Hemophagocytic Lymphohistiocytosis-4 (STX11) ; Familial Hemophagocytic Lymphohistiocytosis-5 (STXBP2) ; Familial Hypercholesterolemia (LDLR) ; Familial Hypercholesterolemia (LDLRAP1) ; Familial Hyperinsulinism (ABCC8) ; Familial Hyperinsulinism (KCNJ11) ; Familial Mediterranean Fever (MEFV) ; Fanconi Anemia, Type A (FANCA) ; Fanconi Anemia, Type B, X-Linked (FANCB) ; Fanconi Anemia, Type C (FANCC) ; Fanconi Anemia, Type D2 (FANCD2) ; Fanconi Anemia, Type E (FANCE) ; Fanconi Anemia, Type F (FANCF) ; Fanconi Anemia, Type G (FANCL) ; Fanconi Anemia, Type I (FANCI) ; Fanconi Anemia, Type L (FANCL) ; Farber Lipogranulomatosis (ASAH1) ; Fragile X Syndrome (FMR1) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarase Deficiency (FH) ; GABA-Transaminase Deficiency (ABAT) ; Galactokinase Deficiency (GALK1) ; Galactosemia (GALT) ; Galactosialidosis (CTSA) ; Gaucher Disease (GBA) ; Gitelman Syndrome (SLC12A3) ; Glucose-6-Phosphate Dehydrogenase Deficiency, X-Linked (G6PD) ; Glutaric Acidemia, Type I (GCDH) ; Glutaric Acidemia, Type IIA (ETFA) ; Glutaric Acidemia, Type IIB (ETFB) ; Glutaric Acidemia, Type IIC (ETFDH) ; Glycine Encephalopathy (AMT) ; Glycine Encephalopathy (GLDC) ; Glycogen Storage Disease, Type IA (G6PC1) ; Glycogen Storage Disease, Type IB (SLC37A4) ; Glycogen Storage Disease, Type II, Pompe Disease (GAA) ; Glycogen Storage Disease, Type III (AGL) ; Glycogen Storage Disease, Type IV (GBE1) ; Glycogen Storage Disease, Type V (PYGM) ; Glycogen Storage Disease, Type VII (PFKM) ; GM1 Gangliosidosis (GLB1) ; GRACILE Syndrome (BCS1L) ; Guanidinoacetate Methyltransferase Deficiency (GAMT) ; Hemophilia B, X-Linked (F9) ; Hepatocerebral Mitochondrial DNA Depletion Syndrome (MPV17) ; Hereditary Fructose Intolerance (ALDOB) ; Hereditary Hemochromatosis (HJV) ; Hereditary Hemochromatosis (TFR2) ; Hereditary Spastic Paraparesis, Type 49 (TECPR2) ; Hermansky-Pudlak Syndrome (AP3B1) ; Hermansky-Pudlak Syndrome (HPS1) ; Hermansky-Pudlak Syndrome (HPS3) ; Hermansky-Pudlak Syndrome (HPS4) ; HMG-CoA Lyase Deficiency (HMGCL) ; Holocarboxylase Synthetase Deficiency (HLCS) ; Homocystinuria (MTHFR) ; Homocystinuria (CBS) ; Homocystinuria, Type cblE (MTRR) ; HPRT-Related Gout, X-Linked (HPRT1) ; Hydrolethalus Syndrome (HYLS1) ; Hyperphosphatemic Familial Tumoral Calcinosis (GALNT3) ; Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA) ; Hypophosphatasia (ALPL) ; Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked (FOXP3) ; Inclusion Body Myopathy 2 (GNE) ; Infantile Cerebral And Cerebellar Atrophy (MED17) ; Infantile Neuroaxonal Dystrophy 2 (PLA2G6) ; Infantile Spinal Muscular Atrophy, X-Linked (UBA1) ; Isovaleric Acidemia (IVD) ; Johanson-Blizzard Syndrome (UBR1) ; Joubert Syndrome 1 (INPP5E) ; Joubert Syndrome 15 (CEP41) ; 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) ; Junctional Epidermolysis Bullosa (LAMA3) ; Junctional Epidermolysis Bullosa (LAMB3) ; Junctional Epidermolysis Bullosa (LAMC2) ; Juvenile Nephronophthisis (INVS) ; Juvenile Nephronophthisis (NPHP1) ; Juvenile Retinoschisis, X-Linked (RS1) ; Krabbe Disease (GALC) ; Lamellar Ichthyosis, Type I (TGM1) ; Leber Congenital Amaurosis (CEP290) ; Leber Congenital Amaurosis (LCA5) ; Leber Congenital Amaurosis (RPE65) ; Leber Congential Amaurosis (RDH12) ; Leigh Syndrome, French-Canadian (LRPPRC) ; Lethal Congenital Contracture Syndrome 1 (GLE1) ; Leukoencephalopathy With Vanishing White Matter (EIF2B5) ; Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3) ; Limb-Girdle Muscular Dystrophy, Type 2B (DYSF) ; Limb-Girdle Muscular Dystrophy, Type 2C (SGCG) ; Limb-Girdle Muscular Dystrophy, Type 2D (SGCA) ; Limb-Girdle Muscular Dystrophy, Type 2E (SGCB) ; Limb-Girdle Muscular Dystrophy, Type 2F (SGCD) ; Limb-Girdle Muscular Dystrophy, Type 2I (FKRP) ; Lipoprotein Lipase Deficiency (LPL) ; Lissencephaly, X-Linked 2 (ARX) ; Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA) ; Lowe Syndrome, X-Linked (OCRL) ; Lysinuric Protein Intolerance (SLC7A7) ; 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) ; Meckel Syndrome 6 (CC2D2A) ; Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) ; Mednik Syndrome (AP1S1) ; Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC1) ; Metachromatic Leukodystrophy (ARSA) ; Metachromatic Leukodystrophy (PSAP) ; Methylmalonic Aciduria (MMAA) ; Methylmalonic Aciduria (MMAB) ; Methylmalonic Aciduria (MMUT) ; Methylmalonic Aciduria, Type cblC (MMACHC) ; Methylmalonic Aciduria, Type cblD (MMADHC) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial Complex I Deficiency (NDUFAF5) ; Mitochondrial Complex I Deficiency (NDUFS6) ; Mitochondrial Complex I Deficiency, Nuclear Type 1 (NDUFS4) ; Mitochondrial Complex I Deficiency, Nuclear Type 17 (NDUFAF6) ; Mitochondrial Complex IV Deficiency (PET100) ; Mitochondrial Myopathy And Sideroblastic Anemia (PUS1) ; Mitochondrial Trifunctional Protein Deficiency (HADHB) ; MKS1-Related Disorders (MKS1) ; Molybdenum Cofactor Deficiency Of Complementation Group A (MOCS1) ; Mucolipidosis III Gamma (GNPTG) ; Mucolipidosis, Type II / III Alpha / Beta (GNPTAB) ; Mucolipidosis, Type IV (MCOLN1) ; Mucopolysaccharidosis Type I, Hurler Syndrome (IDUA) ; Mucopolysaccharidosis Type II, Hunter Syndrome, X-Linked (IDS) ; Mucopolysaccharidosis Type IIIA, Sanfilippo A (SGSH) ; Mucopolysaccharidosis Type IIIB, Sanfilippo B (NAGLU) ; Mucopolysaccharidosis Type IIIC, Sanfilippo C (HGSNAT) ; Mucopolysaccharidosis Type IIID, Sanfilippo D (GNS) ; Mucopolysaccharidosis Type IVA, Morquio Syndrome (GALNS) ; Mucopolysaccharidosis Type IX, Natowicz Syndrome (HYAL1) ; Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome (ARSB) ; Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB) ; Mulibrey Nanism (TRIM37) ; Multiple Pterygium Syndrome, Lethal Type (CHRNG) ; Multiple Sulfatase Deficiency (SUMF1) ; Muscle-Eye-Brain Disease (POMGNT1) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A6 (LARGE1) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A7 (CRPPA) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B2 (POMT2) ; Myasthenic Syndrome, Congenital, 5 (COLQ) ; Myoneurogastrointestinal Encephalopathy (TYMP) ; Myotubular Myopathy, X-Linked (MTM1) ; N-Acetylglutamate Synthase Deficiency (NAGS) ; Nemaline Myopathy 2 (NEB) ; Nephrogenic Diabetes Insipidus (AQP2) ; Nephrotic Syndrome (PLCE1) ; Nephrotic Syndrome, Type 1, Congenital Finnish Nephrosis (NPHS1) ; Neuronal Ceroid Lipofuscinosis (CLN3) ; Neuronal Ceroid Lipofuscinosis (CLN5) ; Neuronal Ceroid Lipofuscinosis (CLN6) ; Neuronal Ceroid Lipofuscinosis (CLN8) ; Neuronal Ceroid Lipofuscinosis (MFSD8) ; Neuronal Ceroid Lipofuscinosis (PPT1) ; Neuronal Ceroid Lipofuscinosis (TPP1) ; Neuronal Ceroid Lipofuscinosis, CTSD-Related (CTSD) ; Niemann-Pick Disease, Type A / B (SMPD1) ; Niemann-Pick Disease, Type CI / D (NPC1) ; Niemann-Pick Disease, Type CII (NPC2) ; Nijmegen Breakage Syndrome (NBN) ; Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2) ; Nonsyndromic Hearing Loss and Deafness, DFNB3 (MYO15A) ; Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A) ; Omenn Syndrome (DCLRE1C) ; Omenn Syndrome (RAG2) ; Ornithine Aminotransferase Deficiency (OAT) ; Ornithine Transcarbamylase Deficiency, X-Linked (OTC) ; Ornithine Translocase Deficiency (SLC25A15) ; Orofaciodigital Syndrome VI (CPLANE1) ; Orofaciodigital Syndrome XIV (C2CD3) ; Osteopetrosis, Infantile Malignant (TCIRG1) ; Pendred Syndrome (SLC26A4) ; Perlman Syndrome (DIS3L2) ; Peroxisome Biogenesis Disorder 3B (PEX12) ; Phenylketonuria (PAH) ; POLG-Related Disorders (POLG) ; Pontocerebellar Hypoplasia (EXOSC3) ; Pontocerebellar Hypoplasia (RARS2) ; Pontocerebellar Hypoplasia (TSEN2) ; Pontocerebellar Hypoplasia (TSEN54) ; Pontocerebellar Hypoplasia (VPS53) ; Pontocerebellar Hypoplasia (VRK1) ; Primary Ciliary Dyskinesia (DNAH5) ; Primary Ciliary Dyskinesia (DNAI1) ; Primary Ciliary Dyskinesia (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, Type II (ABCB11) ; Prolidase Deficiency (PEPD) ; Propionic Acidemia (PCCA) ; Propionic Acidemia (PCCB) ; Pseudocholinesterase Deficiency (BCHE) ; Pseudoxanthoma Elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; Pyridoxine-Dependent Epilepsy (ALDH7A1) ; Pyruvate Carboxylase Deficiency (PC) ; Pyruvate Dehydrogenase Deficiency (PDHB) ; Pyruvate Dehydrogenase Deficiency, X-Linked (PDHA1) ; Recurrent Metabolic Crises With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration (TANGO2) ; Refsum Disease (PHYH) ; Renal Tubular Acidosis (SLC4A4) ; Renal Tubular Acidosis And Deafness (ATP6V1B1) ; Renal-Hepatic-Pancreatic Dysplasia 1 (NPHP3) ; 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) ; Riboflavin Responsive Complex 1 Deficiency (ACAD9) ; Roberts Syndrome (ESCO2) ; Salla Disease (SLC17A5) ; Sandhoff Disease (HEXB) ; Schimke Immunoosseous Dysplasia (SMARCAL1) ; Senior-Loken Syndrome 4 (NPHP4) ; Senior-Loken Syndrome 5 (IQCB1) ; Severe Combined Immunodeficiency, X-Linked (IL2RG) ; Shwachman-Diamond Syndrome (SBDS) ; Sialidosis, Type II (NEU1) ; Sjogren-Larsson Syndrome (ALDH3A2) ; SLC26A2-Related Skeletal Dysplasias (SLC26A2) ; Smith-Lemli-Opitz Syndrome (DHCR7) ; Spastic Paraplegia Type 15 (ZFYVE26) ; Spinal Muscular Atrophy (SMN1) ; Spinocerebellar Ataxia-12 (WWOX) ; Spondylothoracic Dysostosis (MESP2) ; Steel Syndrome (COL27A1) ; Steroid Resistant Nephrotic Syndrome (NPHS2) ; Stuve-Wiedemann Syndrome (LIFR) ; Systemic Primary Carnitine Deficiency (SLC22A5) ; T Cell-Negative (T-), B Cell-Negative (B-), Natural Killer Cellpositive (NK +) Severe Combined Immunodeficiency (RAG1) ; Tay-Sachs Disease (HEXA) ; Trichohepatoenteric Syndrome 1 (TTC37) ; Trichothiodystrophy 1, Photosensitive (ERCC2) ; Triple A Syndrome (AAAS) ; Tyrosine Hydroxylase Deficiency (TH) ; Tyrosinemia, Type I (FAH) ; Tyrosinemia, Type II (TAT) ; Usher Syndrome, Type 2C (ADGRV1) ; Usher Syndrome, Type IB (MYO7A) ; Usher Syndrome, Type IC (USH1C) ; Usher Syndrome, Type ID (CDH23) ; Usher Syndrome, Type IF (PCDH15) ; Usher Syndrome, Type IIA (USH2A) ; Usher Syndrome, Type IIIA (CLRN1) ; Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) ; Vitamin D-Dependent Rickets, Type I (CYP27B1) ;; Werner Syndrome (WRN) ; Wilson Disease (ATP7B) ; Wiskott-Aldrich Syndrome, X-Linked (WAS) ; Wolcott-Rallison Syndrome; Epiphyseal Dysplasia, Multiple With Early-Onset Diabetes Mellitus (EIF2AK3) ; Xeroderma Pigmentosum, Group A (XPA) ; Xeroderma Pigmentosum, Group C (XPC) ; X-Linked Chondrodysplasia Punctata 1 (ARSL) ; X-Linked Congenital Adrenal Hypoplasia (NR0B1) ; X-Linked Heterotaxy-1 And Multiple Types Of Congenital Heart Defects-1 (ZIC3) ; X-Linked Hyper IgM Syndrome (CD40LG) ; X-Linked Lissencephaly-1 (DCX) ; Zellweger Spectrum Disorders (PEX1) ; Zellweger Spectrum Disorders (PEX2) ; Zellweger Spectrum Disorders (PEX26) ; Zellweger Spectrum Disorders (PEX6) ; Zellweger Spectrum Disorders (PEX10).
