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Von Hippel-Lindau Syndrome
Short Description : Von Hippel-Lindau Syndrome Genetic Analysis


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics


Referral Requirements

Important Note:

All referrals through Endocrinology or Genetic Services only.

Contacts:

Endocrinology can be contacted on (09) 307 4949 ext. 26850.

Genetic Health Service NZ can be contacted on 0800 476 123.

 


Specimen Collection
EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood

Note:

For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.


Turnaround Time: Within 13 weeks
Contact Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz




Background Information

Von Hippel-Lindau syndrome (VHL syndrome) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma; and endolymphatic sac tumors. Cerebellar hemangioblastomas may be associated with headache, vomiting, and gait disturbances or ataxia. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 40% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom.

The diagnosis of VHL syndrome is suspected in individuals with characteristic lesions including hemangioblastomas, renal cysts and renal cell carcinoma, pheochromocytoma, and endolymphatic sac tumors. VHL is the only gene known to be associated with VHL syndrome. Molecular genetic testing of the VHL gene detects mutations in nearly 100% of affected individuals.

For more information about the Molecular Genetics service:

Molecular Genetics information page


Last updated at 15:49:04 22/03/2021