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Research on the heritability of HCHWA-D

Genetic testing. Do you really want to know?

Genetic testing for HCHWA-D is possible. A genetic test will conclusively confirm whether you have the genetic predisposition for HCHWA-D. It's up to you decide whether you want to know or not.

Genetic Testing

Since 1990, the research on genetic material (blood testing), has made it possible to determine whether or not a person has the genetic predisposition for HCHWA-D. This genetic test can be done at the DNA-diagnostics department of the Leiden University Medical Centre (LUMC). If you are experiencing any signs and/or symptoms (such as cerebral haemorrhaging), you can get tested. Even if you have no symptoms, but you are a member of an HCHWA-D carrying family, it is possible to take the test.

The test determines whether a person has (or is susceptible to) the disease. In addition to the test itself the DNA-Diagnostics Centre provides guidance and genetic counselling (information and support from medical experts).

How is the test done?

1. The Initial Appointment.
If you are considering getting yourself tested (but are not 100% sure yet) you can make an appointment with the clinical geneticist and the psychologist at the LUMC for an introductory discussion. During this meeting you exchange information about your personal situation, discuss your condition as well as look at the pros and cons of the decision you are about to make. Based on the outcome you can decide whether or not you would like to continue with the test. 

2. Blood Test. 
If you decide to continue with the test, blood will be drawn during a follow-up appointment. Two tubes are required to ensure that there is enough DNA in the case of duplicate test.

3. Diagnosis Appointment. 
It takes roughly 2 months to process the tests. The results are discussed during a third appointment. 

Important considerations

The decision to have yourself tested for HCHWA-D is a far-reaching one. After the test, you will know without any uncertainty whether you have the genetic predisposition for HCHWA-D (if you are a gene-carrier) or not.

A favourable outcome will confirm that you do not have the disease and, equally important, also cannot pass it on. To most a favourable result triggers a great sense of relief, but instances have been recorded where people (after the initial euphoria) experienced depression and feelings of guilt towards relatives who do suffer from the disease.
An unfavourable result on the other hand confirms that you are a genetic carrier. This also means that the disease will reveal itself at some stage – exact date and time impossible to predict as the development of the disease differs in each patient. The ‘unpredictability’ of HCHWA-D often creates feelings of insecurity and anxiety. However, knowing that you have the disease creates an opportunity to resign yourself to the facts, make peace with your circumstances (that you cannot change) and plan the rest of your life accordingly.  

Whether to take the test or not is a very personal choice. For guidance and/or counselling you can contact a psychologist at the LUMC. Want to know more about genetic testing contact the LUMC Secretariat CHA clinic on, email: secretariaat.kg@lumc.nl, or telephone: 071 - 526803.