Days Set Up
Wednesday
Analytic Time

3 - 10 days

Soft Order Code
AJPO

Test Updated:

Synonyms

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

Looking to order a test?

We’ve provided helpful links to make ordering easy.

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

Visit our provider FAQ and learn about common questions to ordering tests.

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
 
LOINC
 

Have More Questions?

Explore our helpful billing resources:

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.