VERY LONG CHAIN ACYL CoA DEHYDROGENASE (VLCAD)
ACADVL Sequencing
MITOCHONDRIAL DNA ANALYSIS

Description:

The ACADVL gene encodes very long-chain acyl-CoA dehydrogenase (VLCAD). VLCAD differs from other acyl-CoA dehydrogenases (SCAD, MCAD, and LCAD) in its size, structure, and intramitochondrial distribution. Human liver VLCAD is a mitochondrial inner membrane bound 154-kD homodimer whereas the other ACADs are homotetramers located in the mitochondrial matrix. The VLCAD enzyme catalyzes the major part of mitochondrial palmitoyl-CoA dehydrogenation in liver, heart, skeletal muscle, and skin fibroblasts. It’s specific activity toward palmitoyl-CoA is10 times higher than LCAD. VLCAD deficiency causes autosomal recessive fatty acid oxidation disorders that can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and a more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting.

Human ACADVL gene is mapped to chromosome 17p13. It contains 20 coding exons. Mutations are diverse. To date, 50 different private mutations have been reported.

Reasons for Referral:

Confirmation of a clinical diagnosis
Carrier testing

Testing Methodology:

The exons and flanking intronic regions of ACADVL gene are PCR amplified and sequenced in the forward and reverse directions.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adult: 5 cc; Child & Infant: 3 cc

Turnaround Time:

4 weeks

CPT Codes and Prices:

Index: 83891, 83904x40, 83898x20, 83912, 83894x2
Known Familial Mutation: 83904x4, 83912, 83898x2, 83891, 83894x2

Shipping Information

Forms:

>> Gene Sequencing Requisition or Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included

Test Code:

Index: 3355
Known Familial Mutation: 3356