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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA
Method

Coding regions of the VHL gene are amplified by PCR and analysed by DNA sequencing. Deletion analysis by MLPA may also be required.

Diagnostic Use / Indications

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma and pancreatic tumors.

External Price$602.48(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Interpretation

The reported frequency of detection of VHL germline mutations has varied from 39 to 80%. A number of symptomatic patients may not have mutations in the VHL gene due to gene rearrangements, intronic mutations or deletions affecting the VHL gene.

Additional Information
  1. This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.
Delphic Number Test Number4588

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