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Ashkenazi Jewish panel

Test Information

Title
Ashkenazi Jewish panel
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: December 09, 2025