Ashkenazi Jewish panel

Test Information

Title
Ashkenazi Jewish panel
Lab
Category
Fertility Reproductive
Test Name (CMS Title)
Ashkenazi Jewish Screening panel
Gene/Platform/Region List
ASPA, BLM, FANCC, HEXA, IKBKAP, MCOLN1, SMPD1
Test type
Targeted Variant
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing
Test Methodology
Sequencing
Methodology Notes
Mass Array and Targeted Sanger Sequencing
Disease/Condition
Ashkenazi Jewish Panel, Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease

Last Updated: November 14, 2025

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