DIABETES INSIPIDUS, NEPHROGENIC
Analysis ID 119
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness DIABETES INSIPIDUS, NEPHROGENIC
OMIM #125800
Clinical information Nephrogenic diabetes insipidus is a rare form of diabetes insipidus resulting from a reduced sensibility of renal tubuli to vasopressin. Disease may be caused by mutations in the V2 receptor gene (vasopressin receptor type 2). Autosomal dominant or recessive forms are caused by mutations in the AQP2 gene.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes AQP2
Analysis description Analysis of the entire coding sequence of the AQP2 gene
Analysis indication Diabetes insipidus, nephrogenic
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders