Test Overview
Test Methodology

Polymerase Chain Reaction (PCR)

Test Usage

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow up to biochemical analyses). Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing. Diagnosis of MCAD deficiency in autopsy specimens.

Reference Range *

Interpretive report provided.

Test Details
Days Set Up
Varies
Analytic Time

15 - 20 days

Soft Order Code
MMLR
Synonyms
  • MCAD Deficiency Mutation Screen
Laboratory
Sendout
Reference Laboratory
Mayo MCADZ (60116)
Section
Special Testing
Specimen Requirements
Collection Instructions

Collect blood in a lavender top (EDTA) or yellow top (ACD) tube and send intact whole blood specimen at room temperature; do not freeze. Include relevant clinical and family history. Bloodspot card also acceptable.

Normal Volume
3 mL EDTA or ACD whole blood, or bloodspot card
Minimum Volume
1 mL EDTA or ACD whole blood
Additional Information

Test sent to Mayo Medical Laboratories.

Billing
CPT Code
81479
NY State Approved
No