Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency– ACADVL

Disorder Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Gene Name ACADVL
Clinical info VLCAD deficiency is an inborn error of fatty acid metabolism caused by the deficiency of very long chain acyl-CoA dehydrogenase. Patients are often identified via newborn screening. Confirmation via molecular testing is then recommended. Three phenotypes of VLCAD deficiency have been described: 1) The severe, early-onset form typically presents in the first months of life with hypotonia, cardiomyopathy, arrhythmias, pericardial effusion, hepatomaegaly and hypoglycemia 2) The early childhood-onset form presents with hepatomegaly and hypoketotic hypoglycemia 3) The later-onset form includes exercise intolerance, muscle pain and/or cramps and intermittent rhabdomyolysis.
Indications 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.
Detection Sequencing of the gene will detect mutations in 93% of individuals with VLCAD deficiency.
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: 81406

Known mutation: 81403

Deletion/Duplication Analysis: 81405
Cost $1500 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.