| Ashkenazi Jewish
Panels: |
FGFR3, Fibroblast Growth Factor Receptor 3 |
 Ashkenazi Panel 1 |
Achondroplasia |
| Tay Sachs Disease (Hexosaminidase A Deficiency) |
Hypochondroplasia |
| Canavan Disease |
Thanatophoric
Dysplasia, Types I and II |
| Fanconi Anemia (FANCC-Related) |
Nonsyndromic Craniosynostosis Syndromes |
| Familial Dysautonomia |
Muenke Syndrome |
| Ashkenazi Panel 2 |
Crouzon Syndrome with Acanthosis Nigricans |
| Niemann-Pick, Type A/B (Sphingomyelinase Deficiency) |
Hereditary Hemochromatosis |
| Mucolipidosis, Type IV |
Limb / Heart Disorders |
| Bloom Syndrome |
Holt-Oram Syndrome, TBX5 - sequence *Soon |
| Glycogen
Storage Disease, Type Ia (Von Gierke Disease)
| Duane Radial Ray Syndrome, SALL4 - sequence *New |
| Ashkenazi Panel 3 |
Townes-Brock Syndrome, SALL1 - sequence *Soon |
| Gaucher
Disease |
Liver Disease, UGT1A1 *New |
| CFTR-Related Disorders (41 Mutations) |
Crigler-Najjar Syndrome, Gilbert Syndrome |
| Cystic Fibrosis |
Hyperbilirubinemia, Transient Familial |
| CBAVD (Congenital Bilateral Absence of Vas Deferens) |
Chemotherapy Dosage Test *Soon |
| Cardiomyopathy Disorders |
Metabolic Disorders |
| Danon Disease (Glycogen Storage IIB) *New |
ANT Antiquitin - Pyridoxine-Responsive Neonatal Seizures *New |
| Lamin A/C (LMNA) |
GA I, Glutaric Acidemia Type 1 - Sequence GCD |
| LMNA-Related Cardiomyopathy |
GA II, (MADD) - Sequence ETFDH/ETF-QO *New |
| Emery-Dreifuss Muscular Dystrophy, Autosomal |
GA II, (MADD) - Sequence ETFA and ETFB *New |
| Limb-Girdle Muscular Dystrophy (LGMD), Type 1B |
Homocystinuria due to CBS Deficiency *New |
| Charcot-Marie-Tooth Neuropathy, Type 2B1 |
LCHAD, Long Chain 3-Hydroxy-Acyl-CoA Dehydrogenase |
| Hutchinson-Gilford Progeria Syndrome |
Deficiency - Common Mutation |
| Mandibuloacral Dysplasia |
MCAD, Medium Chain Acyl-CoA Dehydrogenase Deficiency - |
| Clotting Disorders |
Common Mutation |
|
| Factor V Leiden Thrombophilia |
MCAD, Full Sequence *New |
| Prothrombin G20210 Thrombophilia (Factor II) |
NKH, Non-Ketotic Hyperglycinemia - Sequence AMT, GLDC |
| MTHFR, A233V: 677T (Thermolabile Variant) |
NKH, Non-Ketotic Hyperglycinemia - Sequence GCSH |
MTHFR, E429A: A1298C *New |
Propionic Acidemia due to PCCA or PCCB Deficiency *New |
| Warfarin Dosage Test *New |
VLCAD, Very Long Chain Acyl-CoA Dehydrogenase Def. *New |
| DNA Isolation |
MCC, Maternal Cell Contamination Study |
| Deafness / Nonsyndromic Hearing Loss |
Pigmentation Disorders |
| Connexin 26, GJB2-Related DFNB 1 |
HPS, Hermansky-Pudlak Syndrome, Type 1 |
| Connexin 30, GJB6-Related DFNB 1 *New |
OCA1, Oculo-Cutaneous Albinism, Type 1a/1b *New |
| FMR-1 |
OCA2, Oculo-Cutaneous Albinism, Type 2 *New |
| Fragile X Syndrome |
WT-1 Related Disorders - sequence *New |
| FXTAS: Adult-Onset Tremor Ataxia Syndrome |
Denys-Drash Syndrome, Isolated Diffuse Mesangial Sclerosis, |
| POF: Premature Ovarian Failure |
Familial Wilms Tumor, Frasier Syndrome |