Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene

Test Code

91284

CPT Codes
81401

Preferred Specimen

4 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Instructions

Normal phlebotomy procedure

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 14 days
Refrigerated: 14 days
Frozen: Call lab

Methodology
Next Generation Sequencing

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Tues; Report available: 7 days

Reference Range

See Laboratory Report

Clinical Significance

Based upon newborn screening results, approximately 50% of affected individuals are homozygous for the common variant , p.Lys304Glu (K304E, c.985A>G)K304E, and approximately 40% are compound heterozygous for p.Lys304Glu (K304E, c.985A>G)K304E and one of the more than 40 other, previously described, rare alleles. Nucleotide sequence analysis can be used to detect these rare alleles and can also be used to detect novel, deleterious variants. Therefore, nucleotide sequence analysis can be used for confirmatory diagnosis detection. In addition, it can be used for carrier testing and prenatal diagnosis.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.