Pharmacogenetic panel
GTR Test Accession: Help GTR000527734.1
PHARMACOGENOMICINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Registered in GTR: 2015-08-14
Last annual review date for the lab: 2024-06-07 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Risk Assessment
Colchicine resistance; Alcohol dependence; Alcohol sensitivity, acute more...
ABCB1 (7q21.12); ADH1B (4q23); ADRB1 (10q25.3); ADRB2 (5q32); ADRB3 (8p11.23) more...
Molecular Genetics - Targeted variant analysis: KASP genotyping
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • Isolated DNA
  • EDTA blood
  • Saliva
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:
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:
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:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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.