GTR Test Accession:
Help
GTR000607942.1
Last updated in GTR: 2023-07-20
View version history
GTR000607942.1, last updated: 2023-07-20
Last annual review date for the lab: 2024-07-01
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (27):
Help
Renal cysts and diabetes syndrome;
Congenital anomalies of kidney and urinary tract 1;
Congenital anomalies of kidney and urinary tract 2
more...
Genes (58):
Help
Methods (4):
Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with clinical symptoms consistent with Diabetic kidney disease, Focal …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test Order Code:
Help
KHMDCVGPRNR1
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: 27
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
Help
Total genes: 58
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 4
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Detection of homozygosity
Oligonucleotide hybridization-based DNA sequencing
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Prognostic;
Risk Assessment;
Screening;
Therapeutic management
Target population:
Help
Individuals with clinical symptoms consistent with Diabetic kidney disease, Focal segmental glomerulosclerosis, Membranous nephropathy, systemic lupus erythematosus (SLE), Membranoproliferative Glomerulonephritis, IgA Vasculitis, Renal tubular dysgenesis, Congenital anomaly of kidney and urinary tract, Tubular Interstitial disease, Interstitial Nephritis, Risk of steroid-resistant nephropathy
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Repeatability and reproducibility of alterations associated with this test
were evaluated. The results confirmed that the test is robust regarding repeatability and
reproducibility of variant calling. Across all samples, the pre-sequencing process failure was
≤ 1%. All variants from all samples were consistent by 99.9%.
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,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
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.