UCSD Biochemical Genetics

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego
 
Home → Diagnostic Services → Clinical Tests and Assays
Choose Test:
 
 
Test: MCAD DNA, Common Mutation
Comments:MCAD is inherited as an autosomal recessive disorder which has been known to cause sudden infant death, hypoglycemia, and a Reye-like syndrome. Approximately 90% of all affected individuals examined to date have been shown to be homozygous for the A?G 985 mutation in MCAD gene. The test we offer is based on PCR analysis, and is specific for this mutation.
Specimen type:Blood
Sample Requirements:Blood, 1 mL (minimum 250 μl) (in purple (EDTA), or yellow-top (ACD) tube or dried on small piece of clean filter paper). Blood must be kept in sealed original tubes at room temperature (NOT FROZEN) and sent at room temperature by overnight carrier.
Turnaround time:1-3 weeks.

Return