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Actively fundraising and supporting VHL for over 20 years
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How common is VHL?
VHL Disease is rare. It occurs in about 1 in 36,000 births. Both women and men can have it. Most cases of VHL Disease are inherited (passed down) from a parent, but about 20% of individuals with VHL are the first members of their family to have the disease.
What causes VHL?
What is involved in DNA testing?
Who should get tested?
VHL genetic testing is generally recommended for the following:
- any individual with suspected VHL disease who does not meet clinical criteria
- any asymptomatic child with a parent known to have a pathogenic VHL mutation
- any individual with a family history of VHL disease
- any individual with a clinical diagnosis of VHL disease interesting in pursuing preimplantation genetic diagnosis or prenatal testing for this condition
What does a negative VHL DNA test result mean?
A negative VHL mutation can be indicated for a few reasons:
- You may not have the mutation at all but the gene is in your family
- You may have a mutation in a different gene that causes VHL like disease. Other diseases share similar features with VHL diseases. Other hereditary diseases can cause kidney cancer or renal cell carcinoma. Your genetic counsellor may recommend testing for other syndromes.
- The VHL presentation may have been a spontaneous mutation (not inherited), and may not show in every cell of your body, causing a negative result, when another test may show a positive result.
What does a positive VHL test result mean?
If I have the VHL gene, what are the risks to my children?
If I have a VHL mutation, what are options for eliminating the gene for my children?
If you have the VHL mutation, you may want to learn about options for family planning. for example, embryos can be tested for the family’s genetic mutation before they are even implanted in a woman’s uterus. This process is called pre-implantation genetic diagnosis (PGD). This is performed in combination with an in-vitro fertilization (IVF), and may be an option for families who wish to have children without the hereditary cancer risk.
Memorial Sloan Kettering Cancer Centre – Patient and Caregiver Education