Metabolic alkalosis [25 genes]

Metabolic alkalosis involves a primary increase in bicarbonate concentration that may be caused by different factors. Among the genetic diseases that affect metabolism in renal tubules are those causing metabolic alkalosis due to loss of potassium, failure in chlorine reabsorption, or renal salt loss. Some of these acid-base alterations are associated with pathologies such as Bartter syndrome, pseudoaldosteronism (Liddle syndrome), or Gitelman syndrome, among others.

The identification of genetic variants causing metabolic alkalosis allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when primary metabolic alkalosis syndrome is suspected.

Request study Informed consent
Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Metabolic alkalosis

"*" indicates required fields

This field is for validation purposes and should be left unchanged.
Consentimiento*
Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110414

Updated (dd/mm/yy): 01/07/2025

Metabolic alkalosis: View panel
  • AP2S1
  • BSND
  • CASR
  • CLCN5
  • CLCNKA
  • CLCNKB
  • CUL3
  • DMP1
  • ENPP1
  • FGF23
  • GNA11
  • KCNJ1
  • KCNJ15
  • KCNJ16
  • KLHL3
  • MAGED2
  • PHEX
  • SCNN1A
  • SCNN1B
  • SCNN1G
  • SLC12A1
  • SLC12A2
  • SLC12A3
  • WNK1
  • WNK4

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Ben-David Y, Halevy R, Sakran W, Zehavi Y, Spiegel R. The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis. Eur J Med Genet. 2019 Oct;62(10):103728. doi: 10.1016/j.ejmg.2019.103728. Epub 2019 Jul 17. PubMed PMID:31325522.

Basic information about cookies

Welcome to the basic information about cookies on the website under the responsibility of the entity:

HEALTH IN CODE SL

A cookie is a small information file that is stored in your computer, smartphone or tablet every time you visit our website. Some cookies are ours (we will call them our own cookies) and others belong to external companies that provide services for our website.

Cookies can be of various types: technical cookies are necessary for our website to function; they do not require your permission and are the only ones we have enabled by default.

The other cookies are used to improve our website, to personalise it based on your preferences, or to be able to show you advertising tailored to your searches, preferences, and personal interests. You can accept all these cookies by clicking on the ACCEPT button or REFUSE button below.

For more information, please consult the COOKIES POLICY on our website.