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Epilepsy Drug Metabolism Gene mutation panel
Clinical Genetic Test
Help
offered by
Molecular Diagnostics
GTR Test Accession: Help GTR000556797.3
INHERITED DISEASEPHARMACOGENOMICIMMUNOLOGY ... View more
Last updated in GTR: 2023-10-25
View version history
Last annual review date for the lab: 2023-10-25 LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation; Predictive; Risk Assessment; ...
Conditions (6): Help
Inflammatory bowel disease 13; CYP2C19-related poor drug metabolism; Colchicine resistance; ...
Genes (4): Help
ABCB1 (7q21.12), CYP2C19 (10q23.33), CYP2C9 (10q23.33), EPHX1 (1q42.12)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics
Test short name: Help
EPDRUG
Specimen Source: Help
Test Order Code: Help
EPDRUG
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 development: Help
Test developed by laboratory (no manufacturer test name)
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:
How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
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
Applied Biosystems QuantStudio 12K Flex
Clinical Information
Test purpose: Help
Mutation Confirmation; Predictive; Risk Assessment; Screening; Therapeutic management
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For CYP2C9, analytical sensitivity: 100% (95%CI 84%-100% when compared against referent method); analytical specificity: 100% (95%CI 86%-100% when compared against referent method). For CYP2C19, analytical sensitivity: 100% (95%CI 80%-100% when compared against referent method); analytical specificity: 100% (95%CI 88%-100% when compared against referent method). For EPHX1, analytical sensitivity: 100% (95%CI … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
CAP

CAP Testing Information Help
Pharmacogenetics; CYP2C9; PGX
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information
Consumer resources:

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.