GTR Test Accession:
Help
GTR000556797.3
Last updated in GTR:
2023-10-25
View version history
GTR000556797.3,
last updated:
2023-10-25
GTR000556797.2,
last updated:
2022-06-22
GTR000556797.1,
registered in GTR:
2020-01-13
Last annual review date for the lab: 2024-10-15
LinkOut
At a Glance
Test purpose:
Help
Mutation Confirmation;
Predictive;
Risk Assessment; ...
Conditions (6):
Help
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
- Peripheral (whole) blood
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
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
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
Reviews:
Clinical resources:
Molecular resources:
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.