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Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
ACADVL gene
VLCAD deficiency is an autosomal recessive, rare disorder of fatty acid oxidation (FAO), caused by mutations in the ACADVL gene. Presentation is variable, and has been classified into three forms: a severe neonatal form with high mortality and hypertrophic cardiomyopathy, hepatomegaly, and hypotonia, a milder childhood form with hypoketotic hypoglycemia, hepatomegaly and hypotonia, and an adult-onset form with isolated skeletal muscle involvement leading to muscle pain, rhabdomyolysis and myoglobinuria.
Infants with VLCAD deficiency may be identified through neonatal screening programs. Follow-up testing for VLCAD deficiency is normally by analysis of plasma acylcarnitines. Confirmation can be done by molecular analysis of the ACADVL gene. In clinically affected patients or individuals with deficient enzyme activity or a confirmed fatty acid oxidation defect, characteristic abnormalities of unsaturated fatty acid metabolism in urine and plasma, or cultured skin fibroblasts, mutation analysis identified more than 90% of mutant alleles.
Using genomic DNA obtained from buccal swabs (not accepted on infants) or blood (2mL for infants, 5mL for adults in EDTA), bi-directional sequence of the coding region and splice junctions of the ACADVL gene (exons 1-20) is analyzed. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
VLCADD, C-14, C14, C16, C-16, C18, C-18, urine organic analysis, acylcarnitine, urine, urinary, acylglycines, SIDS, enzyme, ketones, plasma, aciduria, fasting, newborn screening, tetradecanoylcarnitine, C14:1, acylcarnitine, Reye syndrome, palmitate, cardiomyopathy, palmitoyl, palmitic acid
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