Medium Chain Acyl-CoA Dehydrogenase 2 Mutations

Test Code

10344

CPT Codes
81401<br>Limited Access Code

Preferred Specimen

3 mL whole blood collected in an EDTA (lavender-top), K2 EDTA (pink-top) tube, or ACD solution A or B (yellow-top) tube

Minimum Volume

1 mL

Instructions

Submit with order: Patient History for MCAD Deficiency

Transport Temperature

Refrigerated (cold packs)

Specimen Stability

Room temperature: 72 hours
Refrigerated: 7 days
Frozen: 30 days

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

Frozen specimens in glass collection tubes

Methodology
Polymerase Chain Reaction • Fluorescence Monitoring

FDA Status
Test developed and characteristics determined by ARUP Laboratories. See Compliance Statement C: aruplab.com/CS

Setup Schedule

Set up: Daily; Report available: 3-5 days

Reference Range

Negative

Clinical Significance

Preferred initial molecular test to confirm a diagnosis or identify carriers of medium chain acyl-CoA dehydrogenase (MCAD) deficiency for individuals with suggestive clinical and/or biochemical findings.

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.