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Test Code 48592 Ashkenazi Jewish Carrier Testing With Cystic Fibrosis (CF)

Reporting Title

Ashkenazi Jewish Panel With CF

Methodology

Polymerase Chain Reaction (PCR)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Mutation analysis for the following diseases:  CF, Bloom syndrome, Canavan, familial dysautonomia, Fanconi anemia (group C), Gaucher, Niemann-Pick (type A) and Tay-Sachs.

Performing Laboratory

Genzyme Diagnostics

Specimen Requirements

Draw 3 full, yellow-top (ACD) tubes (minimum volume:  6 mL), and send ACD whole blood in original VACUTAINERS®. Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature.

Note:  1. Lavender-top EDTA tubes are also acceptable.

2. Please complete a “Nationwide Children’s Hospital Requisition” and an “Informed Consent for Genetics Testing” form which will be forwarded to Genzyme Diagnostics.

3. Include family history, ethnicity, current estimate of duration of pregnancy (in weeks) on request form.

Specimen Transport Temperature

Ambient/Refrigerate OK/Frozen NO

Reference Values

An interpretive report will be provided.

Test Classification and CPT Coding

83891 - isolation or extraction of highly purified nucleic acid

83893 - dot/slot blot production

83894 - separation by gel electrophoresis

83896 - nucleic acid probe, each

83901 - amplification, target, multiplex, each additional nucleic acid sequence beyond 2

83912 - interpretation and report