Medium Chain Acyl-Coenzyme Dehydrogenase Deficiency
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000265092.1
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2013-05-07
Last annual review date for the lab: 2024-04-16 LinkOut
At a Glance
Diagnosis
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
MCAD
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
pamela.blumenschein@albertaprecisionlabs.ca
780-407-1015
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
susan.christian@albertaprecisionlabs.ca
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
margaret.lilley@albertahealthservices.ca
780-407-1015
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
No
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
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-RFLP with Southern hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
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
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.