Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations

0051205
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Example Reports
Heterozygous
Homozygous
Negative

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Patient History for MCAD Deficiency

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Additional Technical Information

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), Acylglycine, Quantitative, Urine (0081170), and Organic Acids, Urine (0098389).

Mnemonic

MCADPCR

Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

DNA isolation: Sun-Sat; Assay: Sun-Sat

Reported

3-5 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

Negative: The patient is negative for the ACADM 985A>G and 199T>C mutations. Persons affected with MCAD deficiency may have rare mutations in ACADM or other genes not detected by this assay.

Interpretive Data

Interpretive Data:
Background Information for Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations:
Characteristics: Limited mitochondrial fatty acid beta-oxidation leading to hypoglycemia, lethargy, seizures, hypoketotic 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: 75 percent for MCAD deficiency.
Mutations Tested: ACADM mutations c.985A>G (p.K329E, also known as K304E) and c.199T>C (p.Y67H, also known as Y42H).
Methodology: Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. ACADM mutations other than c.985A>G and c.199T>C will not be detected.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81401

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Components

Component Test Code* Component Chart Name LOINC
0051209 MCAD Mutation A985G 50397-9
0051217 MCAD Mutation T199C
0051242 Medium Chain Acyl-CoA Interpretation 43242-7
2001328 MCADPCR Specimen 31208-2
* 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 Deficienc
  • MCAD gene mutation assay
Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations