Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000218579.1
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2014-05-12
Last annual review date for the lab: 2023-07-08 LinkOut
At a Glance
Diagnosis
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Genes (1): Help
ACADM (1p31.1)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Institute of Medical Genetics and Genomics
Test short name: Help
MCAD
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
MCAD
Lab contact: Help
Ishwar Verma, MD, FAAP, Lab Director
dr_icverma@yahoo.com
+91 1125861767
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Test additional service: Help
Custom Prenatal Testing
Informed consent required: Help
Decline to answer
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: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
PCR- restriction enzyme
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
Targeted Mutation c.985A>G; p.K304E
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
the results have an accuracy of 98%
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

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