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Ashkenazi Genetic Mutation Analysis

AJP Panel

Test Codes

EPIC: LAB6376

Department

Send Outs

Instructions

NOTE: This panel tests for the following 8 disorders:

• Bloom syndrome
• Canavan disease
• FANCC-related Fanconi anemia
• Familial dysautonomia
• Gaucher disease
• Mucolipidosis IV
• Niemann-Pick disease types A & B
• Tay-Sachs disease
• Due to specimen stability, this test must be collected Monday – Thursday only.
• This test is available to outpatients only. For questions, please call 1-800-551-0488 or extension 11155.
• Genetic counseling is recommended prior to genetic testing. 

Specimen Collection Criteria

Collect (preferred specimen): One Yellow-top ACD tube. (Minimum: 6.0 mL)
Also acceptable: Two Lavender-top EDTA tubes. (Minimum: 6.0 mL)

• Required additional information:
1. Patient ethnicity (Ashkenazi Jewish or other).
2. Indication for performing the test (carrier or diagnostic).
3. Family history of any inherited diseases common in the Ashkenazi-Jewish population.
• Send specimen for processing immediately after collection.

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain whole blood in original collection tubes, at room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: Whole blood, at room temperature (20-25°C or 68-77°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 6.0 mL)

Rejection Criteria

• Frozen specimens.
• Specimens not collected and processed as indicated.
• Specimens that are not accompanied with the necessary patient information will be tested only after obtaining the required additional information.

In-Lab Processing

Do not centrifuge. Maintain whole blood in original collection tubes, at room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: Whole blood, at room temperature (20-26°C or 68-78.8°F) or refrigerated (2-8°C or 36-46°F). (Minimum: 6.0 mL) 

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 72 hours
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN.

Performed

Tuesday.
Results available in 9-13 days. 

Reference Range

By report.

Test Methodology

Genotyping is performed using Multiplex Polymerase Chain Reaction (PCR).

Interpretation

By report.

Clinical Utility

The Ashkenazi Genetic Mutation Analysis tests for the above listed eight common inherited diseases in the Ashkenazi-Jewish population. For cystic fibrosis, see separate test/report, due to the complexity of genotyping panel. This screen is most appropriate for individuals who are Ashkenazi-Jewish. This screen is not appropriate for individuals who are from other ethnic backgrounds. The only exception is testing for Tay-Sachs disease in four other ethnic groups: French-Canadian, Sephardic Jews, Cajuns and Amish, for whom population data for carrier rates are available. This is a carrier screening test. For diagnostic test of affected children and for prenatal diagnosis, samples will continue to be sent out.

CPT Codes

81200, 81209, 81242, 81251, 81255, 81260, 81290, 81330, and 83080 (reflex).

Contacts

Last Updated

11/11/2023