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Pharmacogenetic panel
Clinical Genetic Test
Help
offered by
Diagnosticum Center for Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000527734.1
PHARMACOGENOMICINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2015-08-14
View version history
Last annual review date for the lab: 2021-04-28 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Risk Assessment
Conditions (46): Help
Colchicine resistance; Addictive alcohol use; Alcohol sensitivity, acute; ...
Genes (29): Help
ABCB1 (7q21.12), ADH1B (4q23), ADRB1 (10q25.3), ADRB2 (5q32), ADRB3 (8p11.23), ...
Methods (1): Help
Molecular Genetics - Targeted variant analysis: KASP genotyping
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Diagnosticum Center for Human Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
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.
How to Order: Help
Please check the website for test ordering
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 46
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 29
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
KASP genotyping
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
According to ACMG-Guidelines

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
The sensitivity for amplification approaches about 100% for mutation detection, but errors can be made because of polymorphisms causing allele dropout.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Other

Description of PT method: Help
KASP phenotyping
VUS:
Software used to interpret novel variations Help
Charite Muatation Taster, PolyPhen-2, SIFT, Phast, BDGP, Align GVDG, Human Splicing Finder, etc.

Laboratory's policy on reporting novel variations Help
Detailed report
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.