Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutatation Analysis [11176X]

Test Code
14938

CPT Codes
81400<br /> **This test code is for non-New York patient testing. For New York patient testing, use test code 10921X**

Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
3 mL

Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top) tube, or sodium or lithium (green-top) tube, or ACD (yellow-top) tube • 5 mL amniotic fluid collected in a sterile, leak-proof container

Instructions
Extracted DNA: Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.

Transport Temperature
Room temperature

Specimen Stability
Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Amniotic fluid
Room temperature: 8 days
Refrigerated: Unacceptable
Frozen: Unacceptable

Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension

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. This test is performed pursuant to a license agreement with Roche Molecular Systems, Inc.

Setup Schedule
Set up: As needed in the AM; Report available: 7-21 days after set up

Limitations
This test only looks for the K304E mutation (c.985 A→G) in exon 11 of the ACADM gene which accounts for approximately 70% of MCAD deficiency alleles. The carrier rate for this specific mutation is between 1:40 to 1:100 in Caucasians of northern European descent. This test does not look at other regions of the gene and will not detect other mutations within the ACADM gene that cause MCAD.

Reference Range
See Laboratory Report

Clinical Significance
MCAD deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation. It is one of the most common inborn errors of metabolism, occurring in about 1 in 5000 live births. It has been suggested that some infants that have died of sudden infant death syndrome (SIDS) may have had MCAD deficiency.

Performing Laboratory
Quest Diagnostics Nichols Inst San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130



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.