Test Overview
Test Methodology

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

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.

Reference Range *

Interpretive report provided.

Test Limitations

Note that this test will not detect all of the mutations that cause these eight diseases. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of one or more of the listed diseases. Any error in the diagnosis of the proband or in family relationships provided in the pedigree will lead to an erroneous segregation pattern and an incorrect interpretation of results. Medical genetic consultation is recommended for all DNA diagnostic cases and is particularly indicated in complex cases or in situations where the diagnosis is atypical or uncertain.

Test Details
Days Set Up
Analytic Time

3 - 14 days

Soft Order Code
  • Fanconi Anemia
  • Tay-Sachs Disease
  • Familial Dysautonomia
  • Canavan Disease
  • Mucolipidosis IV
  • Niemann-Pick Disease Types A and B
  • Gaucher Disease
  • Bloom Syndrome
Reference Laboratory
Special Testing
Specimen Requirements
Collection Instructions

Collect specimens in two yellow top (ACD) tubes. Send intact whole blood at room temperature. Specimens must be received by performing laboratory within 72 hours of collection.

Normal Volume
12 mL ACD whole blood
Minimum Volume
6 mL ACD whole blood
Additional Information

Hexosaminidase A and Total, Leukocytes/Ashkenazi Jewish (Mayo test #23425) will also be performed and billed at a separate additional charge. Test sent to Mayo Medical Laboratories.

CPT Code
81200, 81209, 81242, 81251, 81255, 81260, 81290, 81330
Fee Code
AA514, AA515. AA516, AA517, AA518, AA519, AA520, AA521
NY State Approved