Invoice

Detection of germline mutations of the von Hippel‑Lindau (VHL) gene: (a) in a patient who has a clinical diagnosis of VHL syndrome and: (i) a family history of VHL syndrome and one of the following: (A) haemangioblastoma (retinal or central nervous system); (B) phaeochromocytoma; (C) renal cell carcinoma; or (ii) 2 or more haemangioblastomas; or (iii) one haemangioblastoma and a tumour or a cyst of: (A) the adrenal gland; or (B) the kidney; or (C) the pancreas; or (D) the epididymis; or (E) a broad ligament (other than epididymal and single renal cysts, which are common in the general population); or (b) in a patient presenting with one or more of the following clinical features suggestive of VHL syndrome: (i) haemangiblastomas of the brain, spinal cord, or retina; (ii) phaeochromocytoma; (iii) functional extra‑adrenal paraganglioma