Canavan Disease, Mutation Analysis
Order Code: CAN
Epic Lab Code: LAB2786
Order Form: A-1a Miscellaneous Request or Epic Req
Commercial Mail-out Laboratory
6240 RCP
356-3527
Specimen:
Various
Collection Medium:
Yellow top tube (ACD solution A)
Minimum:
Specimen must arrive at reference laboratory within 96 hours of collection. Submit only 1 of the following specimens: Blood - Draw blood in a yellow-top (ACD) tube(s), and send 6.0 mL of ACD whole blood in original VACUTAINER(S). Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature. (Absolute Minimum: 0.5 mL) PLEASE CONTACT LABORATORY REGARDING THE FOLLOWING SPECIMENS Prenatal Specimens - All prenatal specimens must be accompanied by a maternal blood specimen. Amniotic Fluid Obtain 20 mL of amniotic fluid. Transfer specimen to 2 screw-capped, sterile centrifuge tubes. Send specimen refrigerated. Specimen cannot be frozen. (Absolute Minimum: 10 mL) Chorionic Villus Obtain 20 mg of chorionic villus specimen. Send specimen refrigerated in transport media in 15-mL centrifuge tube. Specimen cannot be frozen. (Absolute Minimum: 5 mL)
Analytic Time:
within 10 days upon receipt at reference laboratory
Reference Range:
An interpretive report, which will include a risk analysis (probability of being a carrier), will be provided.
Comments:
Specimen must arrive at reference laboratory within 96 hours of collection.
Methodology:
Polymerase Chain Reaction (PCR) with Luminex Technology
CPT Code:
83890, 83896(x5), 83900, 83914(x5)