IDH1 IDH2 Individual Marker, Brain Cancer
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000591174.1
Last updated in GTR: 2020-07-01
Last annual review date for the lab: 2023-06-14 Past due LinkOut
At a Glance
Genes (2): Help
IDH1 (2q34), IDH2 (15q26.1)
Molecular Genetics - Sequence analysis of the entire coding region: PCR
patients with gliomas
A total of 4 High Molecular Weight DNA samples and …
Not provided
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Brain Cancer Profile
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
81120 and/or 81121
Order URL
Test service: Help
molecular genomic testing
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
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
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
ABI9700 GeneAmp PCR system
Clinical Information
Test purpose: Help
Clinical validity: Help
A total of 4 High Molecular Weight DNA samples and 6 FFPE specimens were used for this study. All six FFPE specimens were extracted using our manual DNA extraction manual procedure and all ten samples were sequenced by conventional sequencing. The High Molecular Weight DNA samples were obtained from a … View more
Target population: Help
patients with gliomas
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (, LOVD database ( shared/genes/) and other locus specific databases as well as information from published literatures

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. our GeneticsNow service covers it all - please use our website
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The assay identified four mutation samples from all ten specimens and give 100% sensitivity and 100% specificity of the assay. Sensitivity=TP/(TP+FN)x100=4/(4+0)x100=100% Specificity=TN/(TN+FP)x100=6/(6+0)x100=100% Specimens with known IDH1 and IDH2 mutations were mixed with IDH1/2 wild type in concentration ranging from 50% to 0%). Results demonstrated good sensitivity with the lowest detection … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Software used to interpret novel variations Help

Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.