Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000507947.5
Last updated in GTR:
2021-08-12
View version history
GTR000507947.5,
last updated:
2021-08-12
GTR000507947.4,
last updated:
2020-09-09
GTR000507947.3,
last updated:
2015-11-10
GTR000507947.2,
last updated:
2013-11-27
GTR000507947.1,
registered in GTR:
2013-11-27
Last annual review date for the lab: 2024-07-01
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At a Glance
Test purpose:
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Drug Response
Conditions (2):
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Disorder due cytochrome p450 CYP2D6 variant;
Disorder due cytochrome p450 CYP2C19 variant
Genes (2):
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CYP2C19 (10q23.33);
CYP2D6 (22q13.2)
Methods (2):
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Molecular Genetics - Targeted variant analysis: Long range PCR; iPLEX® chemistry combined with the MassARRAY® System
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
View lab's website
View lab's test page
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.
How to Order:
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Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Order URL
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:
Test Order Code,
Specimen source,
Test strategy,
Test development
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 2
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Targeted variant analysis
Long range PCR
Targeted variant analysis
iPLEX® chemistry combined with the MassARRAY® System
* Instrument: Not provided
Clinical Information
Test purpose:
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Drug Response
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The test detects 22 different alleles in CYP2D6 that are associated with no function (*3, *4, *5, *6, *7, *8, *11, *12, *15, *18, *19, *20, *36, *69, *114), decreased function (*9, *10, *14, *17, *29, *41), or normal function (*2). The test detects 9 different alleles in CYP2C19 that …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Practice guidelines:
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.