Ashkenazi Jewish panel

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