Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: ACADM Sequencing

Test Information

ACADM sequencing is a molecular test used to identify variants in the gene associated with Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Turnaround Time

2 weeks

CPT Code(s)






Clinical Information

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial beta-oxidation in humans. It is estimated that in the Caucasian population 1 in 50 individuals is a carrier and 1 in 10,000 live births will be affected. The disease shows an autosomal recessive pattern of inheritance and is characterized by a wide spectrum of clinical features including developmental delay, behavioral problems, fasting intolerance, and vomiting. Patients demonstrate hypoglycemia and medium chain dicarboxylic aciduria. If untreated the disease can lead to coma and premature death.


Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.


Sanger Sequencing


Sequencing of the ACADM gene should detect 95-100% of mutations in affected individuals.

Associated Tests

Specimen Requirements

The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger St...

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