Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000167667.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2014-02-20
Last annual review date for the lab: 2024-02-01 LinkOut
At a Glance
Diagnosis
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Genes (1): Help
ACADM (1p31.1)
Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • 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.
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
Mutation panel: 985A>G and 199T>C
Also offer newborn screening and postmortem testing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Based upon testing of 100,000 specimens
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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