Ordering Recommendation

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. To diagnose or rule out MCAD deficiency, refer to Acylcarnitine Quantitative Profile, Plasma (0040033), Acylglycines, Quantitative, Urine (0081170), and Organic Acids, Urine (0098389).

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Methodology

Polymerase Chain Reaction (PCR) / Fluorescence Monitoring

Performed

Sun-Sat

Reported

3-5 days

Reference Interval

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81401

Components

Component Test Code* Component Chart Name LOINC
3019337 MCAD_PCR Specimen 31208-2
3019338 MCAD A985G 32628-0
3019339 MCAD T199C
3019340 Medium Chain Acyl-CoA Interpretation 43242-7
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • ACADM
  • MCAD Deficiency
  • MCAD gene mutation assay
Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Variants