Molecular Test Listing

Molecular Requisition

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD) is characterized by intolerance to fasting and results in vomiting, lethargy and hypoglycemic coma. Patients appear normal before the onset of the first episode, and during remission between episodes. If untreated, 60% of episodes can be fatal. Patients may present with Reye-like clinical symptoms. The disorder has been associated with some cases of sudden infant death syndrome.

MCAD is an autosomal recessive disorder that has an incidence of about 1 in 10,000; about 1 in 50 in the general population is a carrier. Approximately 90% of the defective genes have a single point mutation at position A985G (K304E) of the MCAD gene on chromosome 1p31.

• Individuals who are exhibiting unexplained vomiting, lethargy or hypoglycemic symptoms.
• Families that have had an incidence of sudden infant death syndrome. The analysis can identify whether parents are carriers of MCAD and determine the risk for the recurrence.
• Individuals at risk who wish prenatal diagnosis.
• Individuals with a Reye-like illness.

• PCR amplification of the region including the A985G mutation followed by mutation specific restriction enzyme digestion.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     8 working days

CPT CODES: