Von Hippel-Lindau Syndrome: VHL gene analysis

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

VHL syndrome

Turnaround Time

4 weeks

Test Code

4588

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

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.

Test Method

Patient DNA is analysed using a Twist Bioscience next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. The panel targets coding regions and intron-exon boundaries of the VHL gene (LRG_322).

Deletion analysis by MLPA may also be required.

Non-Funded Test Cost

$694.33 (Exclusive of GST)

Billing Code

4588

Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microlitre.
For deletion/duplication analysis of this gene refer to MLPA Testing

urgent TAT is 5 days

Contact Information

Enquiry Form