Genetic counselling

 What is a genetic counselling?

A genetic counseling is a talk between doctor and patient/partner/relative, in which the doctor explains the risks and the actual ways the gene for the disease can be transmitted. In some cases the counseling can lead to a bloodtest to see if, for example, the partner is a carrier of the gene. This is the same test as used for the genetic diagnose in persons with Pyruvate Kinase Deficiency.

When should I consult a genetic counselling service?

  • If you have Pyruvate Kinase Deficiency and you are planning a family
  • If your child has Pyruvate Kinase Deficiency and you would like a second child
  • If you have questions about the genetic transmission of your disease

Depending on your state of health and the knowledge the doctor has of Pyruvate Kinase Deficiency, him or her might think it is more or less necessary for you to have genetic testing. Remember that you know your body best and that the doctor might not be aware of the impact of PKD on your everyday life. If you feel it is important to have genetic counseling and/or testing you should be consistent in your request for it.


Disclaimer: This article is written by patients and is meant for basic informational purposes only. It is not intended to serve as medical advice, substitute for a doctor's appointment or to be used for diagnosing or treating a disease. Users of this website are advised to consult with their physician before making any decisions concerning their health. For details see our full disclaimer.

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