GenepoweRx_Nephro_Care
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000607942.1
INHERITED DISEASEURINARY SYSTEM DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-07-20
Last annual review date for the lab: 2023-05-19 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Renal cysts and diabetes syndrome; Congenital anomalies of kidney and urinary tract 1; Congenital anomalies of kidney and urinary tract 2; ...
ACE (17q23.3), ACTN4 (19q13.2), AGT (1q42.2), ANLN (7p14.2), APOL1 (22q12.3), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Individuals with clinical symptoms consistent with Diabetic kidney disease, Focal …
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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:
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:
Technical Information
Availability: Help
Tests performed
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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