Pseudohypoaldosteronism Panel

Nephrology

Pseudohypoaldosteronism Panel

Overview

Test Name
Pseudohypoaldosteronism Panel
Test Code
NEE1012
Test Category
Gene Panels
Test Subcategory
Nephrology
Disease(s) Targeted
Pseudohypoaldosteronism
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of pseudohypoaldosteronism.
Test Approach

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

No. of Genes
10
Panel Content
CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
Deliverables
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 Pseudohypoaldosteronism

Pseudohypoaldosteronism (PHA) is a rare disorder where the body does not respond to the hormone aldosterone, leading to electrolyte imbalances like high potassium and low sodium, which impact the blood pressure. It is divided into two main types inherited in both autosomal dominant and autosomal recessive manners: Type I, which is caused by variants in genes that encode sodium channels subunits (SCNN1A, SCNN1G or SCNN1B) or aldosterone receptor (NR3C2) and Type II, which is caused by variants in the CUL3, KLHL3, WNK1 and WNK4 genes.

Gene Panel Workflow

Order a test using our clinical portal

Preview Documents

©2023 Genseq All Rights Reserved.

Terms & Conditions
Privacy Policy
Cookie Policy
Cookie Preferences