MCAD Deficiency (ACADM) sequencing
|Disorder||Medium chain acyl-CoA dehydrogenase (MCAD) deficiency|
|Clinical info||Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial -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.|
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
Sequencing of the ACADM gene should detect 95-100% of mutations in affected individuals.
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. 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.|
|Turnaround time||14 days|
|Prenatal testing||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.|
|CPT Codes||Unknown mutation: 81479
Known mutation: 81479
|Cost||Unknown mutation: $1000
known mutation: $350
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.