Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene)
GTR Test Accession: Help GTR000238888.3
Last updated in GTR: 2023-10-12
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Genes (1): Help
ACADM (1p31.1)
Biochemical Genetics - Analyte: Metabolite levels; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
MCAD Deficiency
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Instructions including forms can be found on
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 4
Method Category Help
Test method Help
Instrument *
Metabolite levels
Enzyme assay
Enzyme activity
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
With our method we have identified two pathogenic mutations (compound heterozygous or homozygous) in the ACADM gene of 62 patients of a cohort of 62 non-related patients diagnosed with MCAD deficiency on the basis of a markedly deficient enzyme activity in cells as determined in the enzyme diagnostics section of … View more
Assay limitations: Help
Whole gene testing includes analysis of all coding exons plus flanking intron sequences by Sanger sequencing. In principle, this method will identify all missense and nonsense mutations, small deletions, small duplications and small insertions located in the analysed fragments. The presence of large deletions or duplications, or pathogenic mutations located … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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