Long Chain Acyl-CoA Dehydrogenase Mutation

Test Code
11244


CPT Codes
81479

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)


Minimum Volume
3 mL


Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD-B (yellow-top), or lithium heparin (green-top) • Amniotic fluid


Transport Container
EDTA (lavender-top)


Transport Temperature
Room temperature


Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
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 the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up: Wed, Sat a.m.; Report available: 7-11 days


Limitations

This analysis only evaluates the presence of the 1528G>C mutation and cannot detect other possible mutation in the HADHA gene, or other genes. DNA analysis can predict the occurrence of LCHAD deficiency, but not the severity of the condition.



Reference Range
See Laboratory Report


Clinical Significance
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency is an autosomal recessive inborn error of fatty acid metabolism that can cause recurrent episodes of hypoglycemia and metabolic decompensation. Studies have suggested that a percentage of patients with sudden infant death syndrome (SIDS) actually had undiagnosed LCHAD deficiency. Almost all patients with LCHAD deficiency are homozygous for a G>C transition at nucleotide position 1528 in the LCHAD gene.


Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042




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.