GTR Test Accession:
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GTR000568361.3
CAP
Last updated in GTR: 2020-08-10
View version history
GTR000568361.3, last updated: 2020-08-10
GTR000568361.2, last updated: 2020-08-06
GTR000568361.1, last updated: 2019-08-14
Last annual review date for the lab: 2024-07-31
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Medium-chain acyl-coenzyme A dehydrogenase deficiency
Genes (1):
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ACADM (1p31.1)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity:
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Pathogenic variant c.985A>G in ACADM gene has been reported to …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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MCAD deficiency
Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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2542
Lab contact:
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Contact Policy:
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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:
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Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical validity:
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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 …
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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:
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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?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Decline to answer.
Decline to answer.
Recommended fields not provided:
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
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:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.