Medium Chain Acyl-Coenzyme Dehydrogenase Deficiency
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000265092.1
Last updated in GTR: 2013-05-07
Last annual review date for the lab: 2024-04-16 LinkOut
At a Glance
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Genes (1): Help
ACADM (1p31.1)
Molecular Genetics - Targeted variant analysis: PCR-RFLP with Southern hybridization
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
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 additional service: Help
Custom Prenatal Testing
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: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR-RFLP with Southern hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Test Comments: Help
Mutation: c.985A>G
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
70% of patients with MCAD carry the c.985A>G variant
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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