von Hippel-Lindau syndrome (VHL)
Analysis ID 225
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness von Hippel-Lindau syndrome (VHL)
OMIM #193300
Clinical information Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder, which predisposes to a variety of benign and malignant tumors, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, as well as pancreatic tumors.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes VHL
Analysis description Analysis consists of identification of large duplications and deletions in VHL gene with use of MLPA method
Analysis indication Symptoms of von Hippel-Lindau syndrome
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics and Oncology