Ashkenazi Jewish Panel (11 Tests) (ASHJWP)

Test Code

Quest Code

CPT Codes

Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

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 (x3) whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
1.3 mL (x3)

Other Acceptable Specimens
Whole blood collected in: EDTA (royal-blue) top tube (x3), sodium heparin (green-top) tube (x3) or ACD solution A (yellow-top) tube (x3)

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

Transport Container
EDTA (lavender-top) tube

Transport Temperature
Room temperature

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

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

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
Tuesday, thursday, saturday

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).

Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042

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.