CARNITINE TRANSPORTER DEFICIENCY
Organic Cation Transporter OCTN2 (SLC22A5 gene) Sequencing
MITOCHONDRIAL DNA ANALYSIS
Also known as: Carnitine Deficiency, Systemic Primary, CDSP

Description:

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation due to defective plasma carnitine uptake. Mutations in organic cation transporter OCTN2 (SLC22A5 gene) result in urinary carnitine wasting, low plasma carnitine, and decreased intracellular carnitine, which is essential for the transfer of long-chain fatty acids from the cytosol to mitochondria for subsequent beta-oxidation. The disease can present early in life with acute hypoketotic hypoglycemia, Reye syndrome, sudden infant death, or, in a more insidious presentation, later in life with skeletal myopathy or cardiomyopathy. The disease may be precipitated by fasting. The human SLC22A5 gene is mapped to chromosome 5q31. It contains 10 coding exons and encodes for a protein of 557 amino acids. More than 30 private mutations have been reported. Primary carnitine deficiency has a frequency of about 1 in 30,000 to 100,000 in Caucasian population.

Reasons for Referral:

Confirmation of a clinical diagnosis
Carrier testing

Testing Methodology:

The exons and flanking intronic regions of the SLC22A5 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, 83904x20, 83898x10, 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: 3360
Known Familial Mutation: 3361