GTR Test Accession:
Help
GTR000570108.1
Last updated in GTR: 2020-01-22
View version history
GTR000570108.1, last updated: 2020-01-22
Last annual review date for the lab: 2023-07-21
Past due
LinkOut
At a Glance
Methods (1):
Help
Molecular Genetics - Sequence analysis of select exons: 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
Test Order Code:
Help
5367
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:
How to Order,
Specimen source,
Lab contact for this test,
Contact policy,
Test strategy,
Test development
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
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 select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
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
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
This test has more than 99% analytical sensitivity for detecting substitution variants and small indels in the target region.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
No
No
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
Reviews:
Clinical resources:
Molecular resources:
Consumer resources:
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.