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MCADK-M
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY, KNOWN MUTATION

Test Code MCADK-M 
Test MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE (MCAD) DEFICIENCY, KNOWN MUTATION 
Methodology Polymerase Chain Reaction (PCR) Amplification/DNA
Sequencing.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) 
Description Useful for confirmation of diagnosis of MCAD deficiency (as a follow up to biochemical analyses) for individuals from families in which a known familial mutation(s) has been previously identified.
Also useful for carrier screening for individuals at risk for known familial mutation(s) of MCAD deficiency. 
Specimen All specimens should include a "Molecular Genetics Congenital Disorders Request Form" (Supply T245) with information including relevant clinical and family history. 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 and send 2.0 mL of whole blood 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. Due to the complexity of prenatal testing,consultation with the laboratory is required for all prenatal testing.

AMNIOTIC FLUID
Obtain 20 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 of chrionic villus specimen refrigerated in a 15 mL centrifuge tube. SPECIMEN CANNOT BE FROZEN. A separate culture charge will be assessed under test #80333 unless a chromosome analysis on the specimen is also being perfromed 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 provided. 
Analytic Time 7 Days 
Day(s) Test Set Up Monday, Thursday 
CPT Code(s) 81403