Genetic Disorders We Can Screen For
- 21-hydroxylase-deficient Congenital Adrenal Hyperplasia
- ABCC8-related Hyperinsulinism
- Achondrogenesis Type 1B
- Achromatopsia
- Alkaptonuria
- Alpha Thalassemia
- Alpha-1 Antitrypsin Deficiency
- Alpha-mannosidosis
- Alpha-sarcoglycanopathy
- Andermann Syndrome
- ARSACS
- Aspartylglycosaminuria
- Ataxia with Vitamin E Deficiency
- Ataxia-telangiectasia
- Bardet-Biedl Syndrome, BBS1-related
- Bardet-Biedl Syndrome, BBS10-related
- Beta-sarcoglycanopathy
- Biotinidase Deficiency
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-hair Hypoplasia
- Choroideremia
- Citrullinemia Type 1
- CLN3-related Neuronal Ceroid Lipofuscinosis
- CLN5-related Neuronal Ceroid Lipofuscinosis
- Cohen Syndrome
- Congenital Disorder of Glycosylation Type Ia
- Congenital Disorder of Glycosylation Type Ib
- Congenital Finnish Nephrosis
- Costeff Optic Atrophy Syndrome
- Cystic Fibrosis
- Cystinosis
- D-bifunctional Protein Deficiency
- Diastrophic Dysplasia
- Dihydropyrimidine Dehydrogenase Deficiency
- * Factor V Leiden Thrombophilia
- Factor XI Deficiency
- Familial Dysautonomia
- Familial Mediterranean Fever
- Fanconi Anemia Type C
- FKTN-related Disorders
- Fragile X Syndrome
- Galactosemia
- Gaucher Disease
- GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
- * Glucose-6-phosphate Dehydrogenase Deficiency
- Glutaric Acidemia Type 1
- Glycogen Storage Disease Type Ia
- Glycogen Storage Disease Type Ib
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type V
- GRACILE Syndrome
- HADHA-related Disorders
- Hb Beta Chain-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
- Hereditary Fructose Intolerance
- Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
- Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
- Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
- Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
- * HFE-associated Hereditary Hemochromatosis
- Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
- Hypophosphatasia, Autosomal Recessive
- Inclusion Body Myopathy 2
- Isovaleric Acidemia
- Joubert Syndrome 2
- Krabbe Disease
- Lipoamide Dehydrogenase Deficiency
- Maple Syrup Urine Disease Type 1B
- Medium Chain Acyl-CoA Dehydrogenase Deficiency
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Metachromatic Leukodystrophy
- * Mild Hyperhomocysteinemia Caused by MTHFR Deficiency
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Muscle-eye-brain Disease
- NEB-related Nemaline Myopathy
- Niemann-Pick Disease Type C
- Niemann-Pick Disease, SMPD1-associated
- Nijmegen Breakage Syndrome
- Northern Epilepsy
- PCDH15-related Disorders
- Pendred Syndrome
- PEX1-related Zellweger Syndrome Spectrum
- Phenylalanine Hydroxylase Deficiency
- PKHD1-related Autosomal Recessive Polycystic Kidney Disease
- Polyglandular Autoimmune Syndrome Type 1
- Pompe Disease
- PPT1-related Neuronal Ceroid Lipofuscinosis
- Primary Carnitine Deficiency
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 2
- PROP1-related Combined Pituitary Hormone Deficiency
- * Prothrombin Thrombophilia
- * Pseudocholinesterase Deficiency
- Pycnodysostosis
- Recessive Multiple Epiphyseal Dysplasia
- Rhizomelic Chondrodysplasia Punctata Type 1
- Salla Disease
- Segawa Syndrome
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson Syndrome
- Smith-Lemli-Opitz Syndrome
- Spinal Muscular Atrophy
- Steroid-resistant Nephrotic Syndrome
- Sulfate Transporter-related Osteochondrodysplasia
- TPP1-related Neuronal Ceroid Lipofuscinosis
- Tyrosinemia Type I
- Usher Syndrome Type 3
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency
- Wilson Disease
- X-linked Juvenile Retinoschisis
A | |
Aarskog | FGD1 |
Achondroplasia | FGFR3 |
Adrenoleukodystrophy | ABCD1 |
Agammaglobulinemia | BTK |
Alagille Syndrome | JAG1 |
Alpha Thalassemia | HBA |
Alpha-antitrypsin | AAT |
Alport Syndrome | COL4A5 |
Amyloidosis | TTR |
Aniridia | PAX6 |
Ankylosing spondylitis | HLA-B27 |
Argininosuccinic Aciduria | ASL |
Autoimmune Polyendocrine Syndrome | AIRE |
Apert/Crouzon/Pfeiffer | FGFR2 |
Top | |
B | |
Bardet Biedl Syndrome | BBS1, BBS10 |
Barth Dilated Cardiomyopathy | TAZ |
Basal Cell Nevus Syndrome aka gorlin | PTCH |
Beta Thalassemia | HBB |
Birt-Hogge-Dube | FLCN |
Blepharophimosis-ptosis-epicanthus inversus | FOXL2 |
Brachydactyly | GDF5 |
Brachydactyly - Hypertension Syndrome | HTNB |
Hereditary Breast, Ovarian Cancer | BRCA1, BRCA2 |
Top | |
C | |
CADASIL - cerebral arteriopathy, AD, with subcortical infarcts and leukoencephalopathy | Notch3 |
Canavan | ASPA |
Carnitine - AcylCarn Translocase | SLC25A20 |
Cerebral Cavernous Malformation | CCM1 |
Ceroid-lipofuscinoses-Batton | PPT1 |
Charcot Marie Tooth | PMP22, NEFL, GJB1, MPZ |
Cherubism | SH3BP2 |
Choroideremia | CHM |
Chronic Granulomatous Disease | CYBB |
Ciliary Dyskinesia | DNAH5 |
Citrullinemia | ASS1 |
Cleidocranial Dysplasia | RUNX2 |
Cockayne Syndrome | ERCC6 |
Congenital Adrenal Hyperplasia | CYP21A2 |
Congenital Disorder of Glycosylation | CGD1 |
Congenital Icthyosis (Harlequin) | ABCA12 |
Cornelia de Lange Syndrome | NIPBL |
Cystic Fibrosis | CFTR |
Cysteinyl Leukotriene Receptor 1 Deficiency | CYSLTR1 |
Top | |
D | |
D-Bifunctional Protein Deficiency | HSD17B4 |
Darier Disease | ATP2A2 |
Deafness, Autosomal Recessive | GJB2, GJB6 |
Denys-Drash Syndrome | WT1 |
Desmin Storage Myopathy | DES |
Duchenne/Becker MD | DMD |
Dyskeratosis Congenita | DKC1 |
Dystonia | TOR1A |
Dystrophia Myotonica | DMPK |
Top | |
E | |
Ectodermal Dysplasia | EDA1, GJB6 |
Ectrodactyly- Clefting Syndrome | TP63 |
Ehlers Danlos | COL3A1 |
Emery-Dreifuss Muscular Dystrophy | EMD, LMNA |
Epidermolysis Bullosa | KRT5, KRT14, LAMB3, ITGB4, COL7A1 |
Top | |
F | |
Fabry Disease | GLA |
Factor V Leiden | F5 |
Familial Adenomatous Polyposis | APC |
Familial Dysautonomia | IKBKAP |
Familial Exudative Vitreoretinopathy | FZD4 |
Fanconi Anemia | FANCA, FANCC, FANDC2, FANCF, FANCJ, FANCG |
Finnish Nephrosis | NPHS1 |
Fragile X | FMR1 |
Top | |
G | |
Galactosemia | GALT |
Gaucher Disease | GBA |
Gerstman-Straussler Disease | PRNP |
Gluteric Acidemia | ETFA, GCDH |
Glycogen Storage Disease | G6PC, SLC37A4, GAA |
gm1 gangliosidosis | GLB1 |
Greig Cephalopolysyndactyly | GLI3 |
Top | |
H | |
Huntington Disease - Nondisclosing | HD |
Hemophagocytic Lymphohistiocytosis | HPLH1, PRF1 |
Hemophilia A | F8 |
Hemophilia B | F9 |
Hereditary Angioedema | C1NH |
Hereditary Hemmorhagic Telangectasia | HHT1 |
Hereditary Leiomyomatosis | FH |
Hereditary Lymphedema | FOXC2 |
Hereditary Nonpolyposis Colon Cancer | MSH2, MLH1 |
Hereditary Pancreatitis | PRSS1 |
HLA | HLA-A |
Holt-Oram | TBX5 |
Homocystinuria | CBS |
Hunter Syndrome | IDS |
Huntington Disease | HD |
Hurler Syndrome | IDUA |
Hydrocephalus, X-linked | L1CAM |
Hypertrophic Cardiomyopathy | LDB3, MYH7, TNNT2, MYBPC3 |
Hypokalemic periodic paralysis | SCN4A |
Hypophosphatasia | ALPL |
Top | |
I | |
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia | VCP |
Incontinentia Pigmenti | NEMO |
IPEX- immunodysregulation, polyendocrinopathy, enteropathy, x-linked | FOXP3 |
Top | |
J | |
Joubert Syndrome | INPP5E |
Top | |
K | |
Kallmann Syndrome | FGFR1 |
KELL Antigen | KEL |
Kennedy-Spinal bulbar | SMAX1 |
Krabbe Disease | GALC |
Top | |
L | |
Leber Retinal Congenital Amaurosis -X | GUCY2D, CEP290 |
Leigh Complex 1 Deficiency | c20ORF7 |
Leigh Syndrome | LRPPRC |
Leukocyte Adhesion Deficiency | ITGB2 |
Li Fraumeni Syndrome | p53 |
Limb Girdle MD | POMT1, LMNA |
Long QT Syndrome | KCNQ1, SCN5A, KCNE2 |
Top | |
M | |
Macular Dystrophy | VMD2 |
Maple Syrup Urine Disease | BCKDHB |
Marfan Syndrome | FBN1 |
Meckel Gruber | MKS1, MKS3 |
MCADD | MCADH |
Menkes | ATP7A |
Merosin-deficient congenital muscular dystrophy 1A | MCD1A |
Metachromatic Leukodystrophy | ARSA |
Methylmalonic Acidemia | MUT, MMACHC |
Microphthalmia | CHX |
Mucolipidosis 2 I-Cell | GNPTAB |
Multiple Endocrine Neoplasia | MEN1, MEN2A, MEN2B |
Multiple Exostoses | EXT1, EXT2 |
Myasthenia Gravis | CHRNE |
Myotubular Myopathy | MTM |
Top | |
N | |
NEMO immunodeficiency | NEMO |
Neurofibromatosis 1 | NF1 |
Neurofibromatosis 2 | NF2 |
Niemann-Pick | SMPD1, NPC1 |
Nonketotic Hyperglycinemia | AMT, GLDC |
Noonan Syndrome | KRAS, PTPN11, SOS1 |
Norrie Disease | NDP |
Top | |
O | |
Ocular Albinism | GPR143 |
Oculocutaneous Albinism | TYR, OCA2 |
Oculodentaldigital Dysplasia | GJA1 |
Optic Atrophy | OPA1 |
Ornithine Transcarbamylase Deficiency | OTC |
Osteogenesis Imperfecta | COL1A2, COL1A1 |
Osteopetrosis | OSTM1, CLCN7, TCIRG1 |
OTOF related deafness | OTOF |
Top | |
P | |
Pachyonychia Congenita | KRT16, KRT6A |
Peutz-Jeghers Syndrome | STK11 |
Phenylketonuria | PAH |
Pheochromocytoma | SDHB |
Polycystic Kidney Disease | PKD1, PKD2 |
Polycystic Kidney Disease, AR | PKHD1 |
Pompe Disease | GAA |
Pseudohypoparathyroidism | GNAS1 |
Top | |
R | |
Retinitis Pigmentosa | RHO |
Retinoblastoma | RB1 |
Retinoschesis | RS1 |
Rett | MeCP2 |
RhD | RHD |
Rothmund-Thomson | RECQL4 |
Top | |
S | |
Sanfillipo | SGSH |
Sathre-Chozen Craniosynostosis | TWIST |
Shwachman-Diamond syndrome | SBDS |
SCID | ADA, IL2RG |
Senior-Loken Syndrome | IQCB1 |
Sexing | X, Y |
Short Rib Polydactyly Syndrome | DYNC2H1 |
Sickle Cell Anemia | HBB |
Simpson-Golabi-Behmel | GPC3 |
Sjogren-Larsson | ALDH3A2 |
Smith Lemli Opitz | SLOS |
Sorsby Fundus Dystrophy | TIMP3 |
Spinal Muscular Atrophy | SMN1 |
Spinocerebellar Ataxia 1 | ATNX1 |
Spinocerebellar Ataxia 2 | ATXN2 |
Spinocerebellar Ataxia 3 | SCA3 |
Spinocerebellar Ataxia 7 | ATXN7 |
Spondyloepiphyseal Dysplasia | COL2A1 |
Stickler syndrome | COL2A1 |
Surfactant Pulmonary B | SFTPB |
Top | |
T | |
Tay-Sachs Disease | HEXA |
Thrombocytopenia with Beta Thalassemia | GATA1 |
Torsion dystonia | DYT1 |
Treacher Collins | TCOF1 |
Tuberous Sclerosis | TSC1, TSC2 |
Top | |
U | |
Ullrich Congenital Muscular Dystrophy | COL6A2, COL6A3 |
Usher Syndrome | MYO7A |
Top | |
V | |
von Hippel-Lindau | VHL |
Top | |
W | |
Waardenburg | MITF, PAX3 |
Walker-Warburg Syndrome | FKTN |
Wiskott-Aldrich | WAS |
Wolman Lipase A | LIPA |
Top | |
Z | |
Zellweger | PEX1 |