Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis

Test Code

11176

CPT Codes
81400<br />

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen

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

Minimum Volume

3 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi

Other Acceptable Specimens

Whole blood collected in: ACD (yellow-top) tube • 10 mL amniotic fluid collected in a sterile plastic leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent

Instructions

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood (preferred): Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission; 2) Documentation of parental carrier status must be provided; 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Transport Temperature

Room temperature

Specimen Stability

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

Amniotic fluid, chorionic villi, cultured cells
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Do not reject

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.

Setup Schedule

Set up: As needed; Report available: 6-20 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.

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.