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Gastrointestinal stromal tumor
Clinical Genetic Test
Help
offered by
Diagenom GmbH
GTR Test Accession: Help GTR000319848.1
INHERITED DISEASECANCERDIGESTIVE SYSTEM ... View more
Registered in GTR: 2014-10-08
View version history
Last annual review date for the lab: 2024-11-26 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response
Conditions (1): Help
Gastrointestinal stromal tumor
Genes (2): Help
KIT (4q12); PDGFRA (4q12)
Methods (2): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Diagenom GmbH
View lab's website
Test short name: Help
GIST
Specimen Source: Help
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Lab contact: Help
Douglas Friday, Laboratory Contact
mail@diagenom.de
+49 381 44022410
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.
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, How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130XL
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130XL
Clinical Information
Test purpose: Help
Diagnosis; 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
Test Comments: Help
Two-tiered testing: tier 1 is sequencing of selected exons; if negative, tier 2 is sequencing of the remaining exons.
KIT: exons 9, 11, 13, 17
PDGFRA: exons 12, 14, 18
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity >95%.
Assay limitations: Help
Detection limit of somatic mutations in tumor tissue: 10-15 %
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Qualitätssicherungs-Initiative Pathologie (QuiP)
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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