LIDDLE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Liddle Syndrome panel studies three genes involved in this autosomal dominant monogenic disorder that causes severe, early-onset hypertension and hypokalemia. The disorder arises from mutations in the genes encoding the epithelial sodium channel (ENaC) subunits, leading to excessive renal sodium reabsorption and extracellular volume expansion. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the detection of alterations in the regulatory and coding regions of the channel. Some of the genes included in this panel are SCNN1A, SCNN1B, and SCNN1G.
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