Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene)
GTR Test Accession: Help GTR000568361.3
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Genes (1): Help
ACADM (1p31.1)
Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Not provided
Pathogenic variant c.985A>G in ACADM gene has been reported to …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
MCAD deficiency
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Marcela Lagos, MD, Lab Director
+56 223548515
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
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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: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Pathogenic variant c.985A>G in ACADM gene has been reported to account for 90% of mutant alleles in MCADD patients. Up to 80% of MCADD cases in this group are homozygous, while 18% are heterozygous for the c.985A>G variant. A second MCADD variant, c.199T>C is thought to cause a milder form … View more
View citations (1)
  • Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. Nichols MJ, et al. Am J Med Genet A. 2008;146A(5):610-9. doi:10.1002/ajmg.a.32192. PMID: 18241067.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Maier EM, et al. Hum Mutat. 2005;25(5):443-52. doi:10.1002/humu.20163. PMID: 15832312.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
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Will the lab re-contact the ordering physician if variant interpretation changes? Help
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Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Six samples from CAP and six samples from control subjects were analyzed. 100% concordance was obtained in genotypes reported by CAP and without alteration in control subjects. Sanger sequencing analysis approaches an analytical sensitivity of almost 100%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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