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.

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Metabolic alkalosis

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110414

Metabolic alkalosis: View panel

Included panels:
Bartter syndrome – 11 genes
Liddle syndrome (pseudoaldosteronism) – 7 genes
Gitelman syndrome – 1 gene

  • 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.