Days Set Up
Analytic Time

3 - 10 days

Soft Order Code

Test Updated:


Fanconi Anemia
Tay-Sachs Disease
Familial Dysautonomia
Canavan Disease
Mucolipidosis IV
Niemann-Pick Disease Types A and B
Gaucher Disease
Bloom Syndrome

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

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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.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Offsite

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
6 mL ACD whole blood
Minimum Volume
6 mL ACD whole blood

Billing Information

CPT Code
81200, 81209, 81242, 81251, 81255, 81260, 81290, 81330
Pro Fee Code

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.