Nephrology Gene Panel Services
Genetic Testing in Nephrology
Genetic testing in nephrology plays a critical role in understanding the underlying causes of kidney disease, particularly in cases with early onset, familial patterns, or atypical presentation. Many kidney disorders such as diabetes and cystic kidney disease have a genetic basis that can be identified through targeted or comprehensive genetic analysis. Early identification of a genetic cause can improve diagnostic accuracy, guide clinical management, and inform prognosis. It also enables proactive screening of at-risk family members and supports informed family planning. Genetic insights are increasingly essential for tailoring treatment strategies and identifying patients who may benefit from emerging therapies or clinical trials. Nephrology genetic testing is an important step toward more personalised, proactive, and effective kidney care.
Genetic testing for hereditary kidney disease can help you, the healthcare practitioner, to:
- Identify patients who are at risk of developing kidney disease, enabling them to take preventative measures where possible.
- Closely monitor patients with a known predisposition to kidney disease thereby facilitating early detection and treatment, which is known to have a positive impact on patient outcomes.
- Identify and access targeted therapies that may benefit your patient.
- Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate.
- Direct your patients towards helpful patient resources and support groups.
- Assist your patients with family planning.
Nephrology Gene Panel Tests available at Genseq
Genseq offer 19 nephrology gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis.
Test Code
NEE1002
Test Name
No. of Genes
5
Panel Content
Test Code
NEE1003
Test Name
Atypical Haemolytic Uraemic Syndrome Panel
No. of Genes
9
Panel Content
Test Code
NEE1004
Test Name
No. of Genes
10
Panel Content
Test Code
NEE1001
Test Name
Comprehensive Nephrology Panel
No. of Genes
330
Panel Content
Test Code
NEE1005
Test Name
No. of Genes
37
Panel Content
Test Code
NEE1006
Test Name
Diabetes Insipidus, Nephrogenic Panel
No. of Genes
3
Panel Content
Test Code
NEE1007
Test Name
Extreme Early-onset Hypertension Panel
No. of Genes
15
Panel Content
Test Code
NEE1008
Test Name
Hereditary Systemic Amyloidosis Panel
No. of Genes
7
Panel Content
Test Code
NEE1009
Test Name
Membranoproliferative Glomerulonephritis including C3 Glomerulopathy Panel
No. of Genes
8
Panel Content
Test Code
NEE1010
Test Name
Nephrocalcinosis or Nephrolithiasis Panel
No. of Genes
35
Panel Content
Test Code
NEE1011
Test Name
Proteinuric Renal Disease Panel
No. of Genes
57
Panel Content
Test Code
NEE1012
Test Name
No. of Genes
10
Panel Content
Test Code
NEE1013
Test Name
Rare Multisystem Ciliopathy Panel
No. of Genes
113
Panel Content
Test Code
NEE1014
Test Name
Renal Malformations (CAKUT) Panel
No. of Genes
59
Panel Content
Test Code
NEE1015
Test Name
No. of Genes
293
Panel Content
Test Code
NEE1016
Test Name
No. of Genes
50
Panel Content
Test Code
NEE1017
Test Name
Tubulointerstitial Kidney Disease Panel
No. of Genes
20
Panel Content
Test Code
NEE1018
Test Name
Unexplained Kidney Failure in Young People
No. of Genes
85
Panel Content
Test Code
NEE1019
Test Name
Unexplained Young-onset End-stage Renal Disease Panel
No. of Genes
259