Test Overview
Test Usage

This assay tests for specific mutations seen in the following diseases: Gaucher, Tay Sachs, Familial Dysautonomia, Canavan Disease, Mucolipidosis IV, Nieman-Pick Disease Types A and B, Fanconi Anemia, and Bloom Syndrome. This test may also be used for risk refinement via carrier screening for individuals of Ashkenazi Jewish ancestry.

Test Details
Soft Order Code
n/a
Synonyms
  • Fanconi Anemia
  • Tay-Sachs Disease
  • Familial Dysautonomia
  • Canavan Disease
  • Mucolipidosis IV
  • Niemann-Pick Disease Types A and B
  • Gaucher Disease
  • Bloom Syndrome
  • AJPO
  • Ashkenazi
  • AJPO
Laboratory
Sendout
Section
Special Testing
Billing
NY State Approved
No