Genetics

FREQUENTLY ASKED QUESTIONS

Q:

“How can my boyfriend get genetic testing to see if we will be able to have children? I have hypophosphatasia.”

A:

“Based on the information provided, the question you pose “what are the risks to any future children of having HPP” would best be answered in a formal consultation with a genetic counsellor and / or a geneticist. The request for such a consultation could be sent by your family physician or health care provider to the Medical Genetics centre closest to you. If you need help identifying the closest centre please let us know and we would be happy to advise in this regard. Sometimes such consultations can be arranged via Telehealth depending where you live.

In general in a dominant form of HPP there is a 50-50 chance of transmitting the dominant HPP gene from an affected parent to each child. Thus for accurate genetic counselling it is very important that the genetic basis for the HPP in your family be firmly established ie is it a dominant or a recessive form of HPP? This can be usually established by careful review of the past medical history, review of the family history, biochemical tests in your blood and /or DNA tests. This would all be discussed and reviewed with you and your partner at the Genetics consultation. If your partner is healthy it would be unlikely for him to actually have dominant HPP. A blood test on your partner, measuring the alkaline phosphatase level would be a good screening test to start with. ”

Here is a link to CAGC (Canadian Association of Genetic Counsellors) to assist you as you investigate this further.

https://www.cagc-accg.ca/?page=225