GTR Test Accession:
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GTR000591211.1
Registered in GTR:
2020-07-14
View version history
GTR000591211.1,
registered in GTR:
2020-07-14
Last annual review date for the lab: 2023-06-14
Past due
LinkOut
At a Glance
Test purpose:
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Drug Response;
Monitoring;
Prognostic; ...
Conditions (1):
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Melanoma
Chromosome 7
Genes (2):
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KIT (4q12);
NRAS (1p13.2)
Methods (2):
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Biochemical Genetics - Immunohistochemistry: Antibody detection; ...
Target population: Help
Patients with Melanoma seeking treatment and prognosis
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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MELAN82
Specimen Source:
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- Fresh tissue
- Frozen tissue
- Paraffin block
Who can order: Help
- Health Care Provider
- Licensed Physician
Test Order Code:
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Melanoma Profile
CPT codes:
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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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contact GoPath labs to set up on how to send specimen to the lab with order
Order URL
Order URL
Test service:
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molecular testing
Comment: BRAF, PDL1, NRAS, cKIT
Comment: BRAF, PDL1, NRAS, cKIT
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument
Immunohistochemistry
Antibody detection
Other
Sequence analysis of select exons
PCR
ABI 3130XL Genetic Analyzer
Clinical Information
Test purpose:
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Drug Response;
Monitoring;
Prognostic;
Screening;
Therapeutic management
Target population:
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Patients with Melanoma seeking treatment and prognosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://www.ncbi.nlm.nih.gov/clinvar/variation/), LOVD database (http://databases.lovd.nl/ shared/genes/) and other locus specific databases as well as information from published literatures
Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://www.ncbi.nlm.nih.gov/clinvar/variation/), LOVD database (http://databases.lovd.nl/ 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?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided. our GeneticsNow service covers it all - please use our website www.gopathlabs.com
Not provided. our GeneticsNow service covers it all - please use our website www.gopathlabs.com
Recommended fields not provided:
Clinical validity,
Clinical utility,
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 Platform:
NextGene
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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BRAF - The assay identified 15 V600E mutation samples from all 59 FFPE specimens and give 100% sensitivity and 98% specificity of the assay. Sensitivity=TP/(TP+FN)x100=15/(15+0)x100=100% Specificity=TN/(TN+FP)x100=43/(43+1)x100=98% NRAS - The assay identified 15 V600E mutation samples from all 59 FFPE specimens and give 100% sensitivity and 98% specificity of the assay. …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
CAP
No
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
CAP
VUS:
Software used to interpret novel variations
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NextGENe
Laboratory's policy on reporting novel variations Help
formal reports
NextGENe
Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Test Confirmation,
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:
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Not provided
Additional Information
Reviews:
Suggested reading:
Clinical resources:
Practice guidelines:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.