Test Information |
Test Name |
Ashkenazi Jewish panel |
Lab (Location) |
The Hospital for Sick Children |
Category |
Fertility/Reproductive |
Subcategory |
Ashkenazi Jewish Screening panel |
Gene/Platform/Region List |
ASPA, BLM, FANCC, HEXA, IKBKAP, MCOLN1, SMPD1 |
Test type |
Targeted Variant |
Samples Accepted |
Blood, DNA |
Indications Diagnosis |
Carrier / Cascade Testing, Prenatal |
Test Methodology |
Sequencing |
Methodology Notes |
Mass Array and Targeted Sanger Sequencing |
Diseases/Conditions |
Ashkenazi Jewish Panel, Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease |