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CANW-M
CANAVAN DISEASE MUTATION ANALYSIS

Test Code CANW-M 
Test CANAVAN DISEASE MUTATION ANALYSIS 
Methodology Polymerase Chain Reaction (PCR) with Luminex Technology
(PCR is utilized pursuant to a license agreement
with Roche Molecular Systems, Inc.) 
Description Useful for confirmation of clinical diagnosis of Canavan disease. However, testing for N-acetylaspartic acid in urine (urinary organic acid screen) is the preferred method of establishing the diagnosis. This test is also useful for carrier testing for individuals who have a family history of Canavan disease, prenatal diagnosis in at-risk pregnancies, and risk refinement via carrier screening for individuals of Ashkenazi Jewish ancestry. 
Specimen ALL SPECIMENS SHOULD INCLUDE A "MOLECULAR GENETICS CONGENITAL DISORDERS REQUEST FORM" (SUPPLY T245) WITH INFORMATION INCLUDING RELEVANT CLINICAL AND FAMILY HISTORY INFORMATION. THIS FORM IS SUPPLIED BY NorDx.
SPECIMENS MUST ARRIVE WITHIN 96 HOURS OF COLLECTION.

SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS;

BLOOD
Draw a lavender-top (EDTA) tube or a yellow-top (ACD) tube of whole blood (3.0 - 6.0 mL) and send in the original VACUTAINER®. Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature only.

PRENATAL SPECIMENS
All prenatal specimens must be accompanied by a maternal blood specimen.

AMNIOTIC FLUID
Obtain 20 mL (minimum: 10 mL) of amniotic fluid. Transfer specimen to 2 screw-capped, sterile centrifuge tubes. Send specimen refrigerated. SPECIMEN CANNOT BE FROZEN. A separate culture charge will be assessed under test #80334 unless a chromosome analysis on the specimen is also being performed at Mayo. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent at ambient temperature.

CHORIONIC VILLUS
Obtain 20 mg (minimum: 5 mg) of chorionic villus specimen in a 15 mL of transport medium, refrigerated. A separate culture charge will be assessed under test #80333 unless a chromosome analysis on the specimen is also being performed at Mayo. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent at ambient temperature. 

Reference Values An interpretive report will be issued that includes sample information, pedigree (when appropriate), assay information, background information, and estimate of carrier risk based on test results. 
Analytic Time 7 Days 
Day(s) Test Set Up Thursday 
CPT Code(s) 81200