GTR Test Accession:
Help
GTR000522221.5
CAP
Last updated in GTR: 2022-04-08
View version history
GTR000522221.5, last updated: 2022-04-08
GTR000522221.4, last updated: 2021-02-09
GTR000522221.3, last updated: 2018-08-13
GTR000522221.2, last updated: 2017-08-10
GTR000522221.1, last updated: 2015-09-02
Last annual review date for the lab: 2022-04-08
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Monitoring;
Predictive
Conditions (10):
Help
Focal segmental glomerulosclerosis; Alport syndrome; Autosomal dominant Alport syndrome; ...
Genes (52):
Help
ACE (17q23.3), ACTN4 (19q13.2), ANLN (7p14.2), APOL1 (22q12.3), ARHGAP24 (4q21.23-21.3), ...
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
Specimen Source:
Help
- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
- Nurse Practitioner
Lab contact:
Help
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
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required:
Help
Decline to answer
Test strategy:
Help
aCGH testing for NPHS1, NPHS2, COL4A5, CLCN5 is performed at an outside CAP/CLIA laboratory when sequencing does not identify any disease causing alterations.
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,
Test development
Conditions
Help
Total conditions: 10
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
Help
Total genes: 52
| 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
Diagnosis;
Monitoring;
Predictive
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
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
aCGH testing for the NPHS1, NPHS2, COL4A5, CLCN5 genes is performed at an outside CAP/CLIA lab when sequencing does not identify any disease causing alterations.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab
Test performance comments
aCGH testing for the NPHS1, NPHS2, COL4A5, CLCN5 genes is performed at an outside CAP/CLIA lab when sequencing does not identify any disease causing alterations.
Analytical Validity:
Help
sensitivity of 96.6-98.9% and a specificity of 100.0%
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
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:
Help
Not provided
Additional Information
Reviews:
Clinical 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.