Hyperaldosteronism is a clinical condition caused by excessive production of aldosterone, a hormone secreted by the adrenal glands. The main function of aldosterone is to regulate the balance of water and salts in the body: it acts on the kidneys by retaining sodium and promoting the elimination of potassium. When this hormone is present in excessive amounts, the body retains too much sodium, leading to a build-up of fluid that causes hypertension (high blood pressure). At the same time, excessive potassium loss can cause fatigue, muscle cramps and, in severe cases, cardiac arrhythmias.

5 genes

Not known

Multigenic panel aimed at molecular diagnosis of hyperaldosteronism

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

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