|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;
|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|