Von hippel-lindau syndrome

Diagnosis and Testing

How do I get tested for von Hippel-Lindau syndrome?

A doctor may suspect a diagnosis of von Hippel-Lindau (VHL) syndrome because of the presence of certain cysts or tumors that are associated with the disorder. To learn more about the chance for an individual to have VHL, a doctor will do a complete physical examination, review family and medical history, and order lab tests and imaging such as an ultrasound, magnetic resonance imaging (MRI), or CT scan. A doctor may recommend genetic counseling and genetic testing. Genetic testing involves studying the VHL gene for disease causing changes (variants or mutations). In families with a medical history of VHL syndrome, the presence of one tumor associated with the disorder is considered diagnostic. At-risk members of the family who do not have symptoms can receive genetic testing to see whether they have the disorder.

The VHL Alliance provides referrals to VHL Clinical Care Centers. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

Individuals with a family history VHL syndrome, should also talk to a genetic counselor. To find a genetic counselor near you who can discuss testing and results, search on the National Society of Genetic Counselor's website.your area.

References
  • Plon SE, Jonasch E. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate, Inc website.
  • Maher ER, Neumann HPH, Richard S. von Hippel-Lindau disease: A clinical and scientific review. Eur J Hum Genet. 2011;19:617-623.
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More Diagnosis and Testing Content

Is there newborn screening for Von Hippel-Lindau syndrome?

What tests support a diagnosis of Von Hippel-Lindau syndrome?

Who else in my family should I test for Von Hippel-Lindau syndrome?

Can Von Hippel-Lindau syndrome be detected before birth?

What are the tests for Von Hippel Lindau?

Is there newborn screening for Von Hippel-Lindau syndrome?

Von Hippel-Lindau syndrome (VHL) is not one of the disorders that is screened for at birth. If a baby appears to have health problems that could be caused by VHL, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor search at National Society of Genetic Counselor's website.Information on how to add a disorder to newborn screening programs can be found at Save Babies Through Screening Foundation.

References
  • Save Babies Through Screening Foundation website. http://savebabies.org/
What tests support a diagnosis of Von Hippel-Lindau syndrome?

Molecular genetic testing can also be used to confirm a clinical diagnosis of Von Hippel-Lindau (VHL) syndrome. If there is a positive family history, the presence of one tumor can lead to molecular genetic testing. If there is not a positive family history, the presence of multiple characteristic tumors can lead a doctor to recommend molecular genetic testing. These tests involve studying the VHL gene for changes that cause the disorder. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or gene-targeted deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

There are more tests a doctor might perform when assessing someone for VHL syndrome. This can include blood tests and examination of a urine sample. There are various x-rays technique that may be used to detect tumors.

To find a genetic medical professional nearby who can discuss information and testing related to VHL, a listing of medical geneticists can be found at the American College of Medical Geneticists website. To find a genetic counselor near you search at National Society of Genetic Counselor's website.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Maher E. Von Hippel-Lindau syndrome. OrphaNet website. Accessed September 8, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892
Who else in my family should I test for Von Hippel-Lindau syndrome?

If the specific von Hippel Lindau (VHL) disease causing gene change is known in a family, genetic testing for that gene change can be done to see if other family members have VHL. A genetic counselor or a physician with experience in VHL syndrome can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Genetics and a genetic counselor can be found through at the National Society of Genetic Counselor's website.

References
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
  • Plon SE, Jonasch E. Clinical features, diagnosis, and management of von Hippel-Lindau disease. UpToDate, Inc. website.
Can Von Hippel-Lindau syndrome be detected before birth?

Some parents may choose to have their child tested for Von Hippel-Lindau (VHL) syndrome before they are born. This is known as prenatal diagnosis. If the gene change(s) that causes VHL syndrome are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the VHL gene. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for changes in the VHL gene. There are risks to the unborn baby of doing these tests before birth. A genetic counselor can discuss the risks and benefits of prenatal diagnosis for VHL. Genetic counselors can be found in a particular area by searching on the National Society of Genetic Counselor's website

References
  • Maher E. Von Hippel-Lindau syndrome. OrphaNet website. Accessed September 8, 2016. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=892
  • Frantzen C, Klasson TD, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews website. Accessed September 8, 2016. http://www.ncbi.nlm.nih.gov/books/NBK1463/
What are the tests for Von Hippel Lindau?

There are multiple testing options for Von Hippel Lindau. If there is a known gene mutation in a family, targeted testing, also known as single site testing, can be ordered. With targeted testing, the laboratory will only look for one specific genetic change instead of scanning the entire gene. This is generally the least expensive option offered by testing companies. In order to have targeted testing, you must provide a copy of your relative's positive genetic test result so the laboratory knows what genetic change to test.

There are also testing options when a gene mutation has not been identified in the family. Many laboratories offer complete analysis of the VHL gene. This analysis involves sequencing and deletion/duplication analysis of the VHL gene.

There are numerous genes beyond VHL that can be associated with hereditary cancer. In some situations, testing for multiple genes may be more efficient and/or cost-effective. This type of testing is often referred to as multi-gene testing or panel testing. Cancer panels often include VHL, and other genes that are associated with hereditary cancer.

To find a genetic counselor near you who can discuss types of testing and results, search on the National Society of Genetic Counselor's website.

References
  • Accessed on October 20, 2019: GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1463/)

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