Ordering Recommendation

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. Recommended when Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations (0051205) does not identify two causative variants. To diagnose or rule out MCAD deficiency, refer to Acylcarnitine Quantitative Profile, Plasma (0040033), Acylglycine, Quantitative, Urine (0081170), and Organic Acids, Urine (0098389).

Mnemonic
MCAD FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

14-21 days

New York DOH Approval Status
This test is New York DOH 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
Remarks
Stability

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

Reference Interval
Interpretive Data

Background Information for Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing:
Characteristics: 
Limited mitochondrial fatty acid beta-oxidation leading to hypoglycemia, lethargy, seizures, hypoketotic dicarboxylic aciduria, vomiting, hepatomegaly, hepatic failure, encephalopathy, and sudden death. Manifestations often triggered by prolonged fasting or other metabolic stressors.
Incidence:
1 in 15,000.
Inheritance:
Autosomal recessive.
Cause:
Deleterious ACADM gene mutations.
Clinical Sensitivity:
95 to 99 percent
Methodology: Polymerase chain reaction (PCR) followed by bidirectional sequencing of the entire coding region and intron/exon boundaries of the ACADM gene. 
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
 Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletion/duplications will not be detected.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
0051759 MCAD Deficiency (ACADM) Sequencing
2001361 MCAD FGS Specimen
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Aliases
  • ACADM
  • MCAD ACADM
  • MCAD Gene Sequence Analysis
Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing