Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) Sequencing

Deficiency of an enzyme that makes it impossible to digest certain kinds of fat. Children born with MCAD deficiency cannot metabolize medium-chain fats such as coconut oil. If undiagnosed, the disorder can lead to metabolic collapse, coma and even death. Babies who survive run the risk of severe brain damage. Treatment involves strict attention to what the baby eats. The child has to avoid medium-chain fats in their diet.

The gene for MCAD is located on chromosome 1p31. Over 25 MCAD gene variants have been reported. One of these gene variants, the K304E MCAD mutation, accounts for the majority of MCAD mutations identified to date. These mutations can be identified through through sequencing and therefore can be detected in newborns by DNA analysis from newborn blood.

Methodology: Sequencing analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 277.85

Test Requisition: Sequencing Requisition

CPT Code: 81479 Cost: $763.00

Turn-around-time: 10 days