RENAL CHANNELOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Renal Channelopathies panel focuses on the study of genetic alterations affecting renal ion channels responsible for the transport of sodium, potassium, chloride, calcium, and magnesium, which are essential for maintaining fluid and electrolyte balance. These diseases include conditions such as Bartter and Gitelman syndromes, pseudohypoaldosteronism type I, and magnesium transport disorders. Clinically, they are associated with hypokalemia, metabolic alkalosis, polyuria, dehydration, and, in some cases, progressive renal failure. Molecular analysis of the genes involved allows for diagnostic confirmation, treatment guidance, and the identification of familial risk. Key genes analyzed include: BSND, CLCNKA, CLCNKB, KCNJ1, PKD2, SCNN1A, SCNN1B, SCNN1G, TRPC6, TRPM6, and others. A complete list of analyzed genes can be obtained by contacting Genotica.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€