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Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene
Test Code91284
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
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.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |