Nephrology

Renal Tubulopathies Panel

Overview

Test Name

Test Code

NEE1016

Test Category

Gene Panels

Test Subcategory

Nephrology

Disease(s) Targeted

Renal tubulopathies

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of renal tubulopathies.

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis.

No. of Genes

Panel Content

AP2S1, AQP2, ATP1A1, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CA2, CASR, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, CTNS, CUL3, CYP24A1, FAH, GATM, GNA11, HNF1B, HNF4A, KCNJ1, KCNJ10, KCNJ16, KLHL3, MAGED2, NR3C2, REN, RMND1, RRAGD, SARS2, SCNN1A, SCNN1B, SCNN1G, SEC61A1, SLC12A1, SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC4A1, SLC4A4, SLC5A2, TRPM6, UMOD, VIPAS39, VPS33B, WDR72, WNK4

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Renal tubulopathies

Renal tubulopathies are a group of genetic disorders caused by a malfunction in the kidney tubules' ability to transport water and solutes, leading to disruptions in electrolyte, fluid, and acid-base balance. Common genetic diseases include Bartter syndrome (which is inherited mainly in autosomal recessive manner, and is associated with variants in genes like SLC12A1 and KCNJ1) and Gitelman syndrome (with autosomal recessive inheritance, and associated with SLC12A3 variants).

Renal Tubulopathies Panel

Overview

Test Name

Test Code

Test Category

Test Subcategory

Disease(s) Targeted

Who Is The Test For?

Test Approach

No. of Genes

Panel Content

Deliverables

Turnaround Time

Specimen Requirements

About Renal tubulopathies

Gene Panel Workflow

Consent, Test Request, and Sample Collection

Data Generation

Bioinformatics and Analysis

Reporting