LONG CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY (LCAD)
ACADL Sequencing
MITOCHONDRIAL DNA ANALYSIS

Description:

The ACADL gene encodes long-chain acyl-CoA dehydrogenase (LCAD). Similar to other acyl-CoA dehydrogenases (SCAD and MCAD), the active form of LCAD is a homotetramer mitochondrial matrix protein. LCAD deficiency causes an autosomal recessive fatty acid beta-oxidation disorder with infantile or early childhood onset. The disease is characterized by hypotonia, nonketotic hypoglycemia, cardiomegaly, and hepatomegaly. Molecular studies have been scarce. The human ACADL gene is mapped to chromosome 2q34. It contains 11 coding exons and encodes for a protein of 430 amino acid residues. Only a few mutations in this gene have been reported.

Reasons for Referral:

Confirmation of a clinical diagnosis
Carrier testing

Testing Methodology:

The exons and flanking intronic regions of the ACADL gene are PCR amplified and sequenced in both 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, 83904x22, 83898x11, 83912, 83894x2
Known familial mutation: 83904x4, 83898x2, 83912, 83891, 83894x2

Shipping Information

Forms:

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

Test Codes:

Index: 3385
Known Familial Mutation: 3386