Hereditary Diabetes Insipidus: Clinical Exome Panel (Sec. & CNVs) – 4 genes

LabGenetics
Caja de Hereditary Diabetes Insipidus: Clinical Exome Panel (Sec. & CNVs) – 4 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de Hereditary Diabetes Insipidus: Clinical Exome Panel (Sec. & CNVs) – 4 genes

The Hereditary Diabetes Insipidus panel differentiates between central (AVP/AVP-neuron) and nephrogenic (AVPR2/AQP2) forms in patients with polyuria-polydipsia, hypernatremia, and serum hyperosmolality with dilute urine. NGS with SNVs, indels, and CNVs identifies variants that affect vasopressin synthesis/secretion, its renal V2 receptor, or the AQP2 water channel. Genes included: AQP2, AVP, AVPR2, WFS1.

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