Ashkenazi Jewish Panel (11 Tests)

Message

This testing is performed at Quest Diagnostics. This panel has 11 tests which can also be ordered individually.

Test Code

ASHKENAZI JEWISH PANEL(O)

CPT Codes
81412

Includes

Cystic Fibrosis, Canavan Disease, Gaucher Disease, Fanconi Anemia, Bloom Syndrome, Tay-Sachs Mutation, Familial Dysautonomia, Niemann-Pick Disease, Mucolipidosis Type IV, Glycogen Storage Disease, MSUD Mutation (Jewish)

Preferred Specimen

4 mL whole blood collected in each of three EDTA (lavender-top) tubes

Minimum Volume

1.3 mL (x3)

Other Acceptable Specimens

Whole blood collected in each of three: EDTA (royal-blue-top) tubes, sodium heparin (green-top) tubes, or ACD solution A (yellow-top) tubes

Instructions

Normal phlebotomy procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze.

Transport Container

Transport tubes (x3)

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received frozen

Methodology
Multiplex PCR • Massively Parallel Sequencing • Polymerase Chain Reaction (PCR) • Next Generation Sequencing

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Mon, Sat; Report available: 11-17 days

Reference Range

See Laboratory report

Clinical Significance

This panel consists of the diseases frequent in the Ashkenazi Jewish population that have been recommended for population based carrier screening by the American College of Obstetricians and Gynecologists (ACOG) and/or American College of Medical Genetics and Genomics (ACMG), with two additional conditions. This panel screens for Cystic Fibrosis, Tay-Sachs (DNA), Canavan Disease, Familial Dysautonomia, Gaucher Disease, Fanconi Anemia Type C, Bloom Syndrome, Niemann-Pick Disease Type A, Mucolipidosis Type IV, Glycogen Storage Disease, and Maple Syrup Urine Disease (AJ Founder Mutations).

Last Updated: November 13, 2018

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.