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Nevus Gene Set
Clinical Genetic Test
Help
offered by
Clinical Genomics Laboratory
GTR Test Accession: Help GTR000522544.5
INHERITED DISEASECANCERCONNECTIVE TISSUE ... View more
Last updated in GTR: 2019-10-14
View version history
Last annual review date for the lab: 2022-04-08 Past due LinkOut
At a Glance
Test purpose: Help
Predictive; Diagnosis
Conditions (2): Help
Linear nevus sebaceous syndrome; Epidermal nevus
Genes (11): Help
BRAF (7q34), FGFR1 (8p11.23), FGFR3 (4p16.3), GNA11 (19p13.3), GNAQ (9q21.2), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Genomics Laboratory
View lab's website
Specimen Source: Help
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
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
To order a test, complete and submit a requisition form that can be found on our website (gps.wustl.edu)
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
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, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Predictive; Diagnosis
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
Availability: Help
Tests performed
Interpretation performed in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed both in-house and at an outside lab
Report generated in-house

Test performance comments
Sanger sequencing performed on peripheral blood for comparative analysis at a CAP/CLIA lab when alterations are detected in affected tissue.
Analytical Validity: Help
Specificity, sensitivity, and positive predictive value (PPV) of this test to detect single nucleotide variants (SNV) in coding regions at an expected variant allele fraction (VAF) of 50% are estimated at 100.0% as determined by comparison of the genotypes at known single-nucleotide polymorphisms detected by this assay from HapMap DNA … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.