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91284: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene Sequencing Print View
MCAD Sequencing      

PRIMARY
1 Whole Blood EDTA 4 (3) mL   Refrigerated - 14 Day(s)/Room Temperature - 14 Day(s)  
ALTERNATE

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.

Normal phlebotomy procedure
Setup Schedule
Tuesday

Reported (Analytical Time)
7 days

CPT Code
81479

The CPT codes provided 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 payer being billed.

Notes
Transport Temperature: Room temperature
Frozen Stability: Call lab

Methodology: Next Generation Sequencing






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