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Private testing for PALB2 mutation?

6 replies

britespark1 · 17/02/2024 11:32

Long story short, lots of paternal relatives identified as having the PALB2 gene mutation for increased risk of cancer and sadly also quite a few now actually with cancer too. Obviously worrying but until my "D"F is tested (because he is a sibling of someone with the mutation), understandably I myself cannot get the blood test done on the NHS. Has anyone any experience of getting this done privately? I have been waiting over a year for him to do it.

OP posts:
CJ4713 · 17/02/2024 11:38

How much longer are you prepared to wait?
No experience I'm afraid, but I assume you'd search for a private GP or geneticist to order the blood test and explain potential results. I'd ask for costing before booking the appointment. Best of luck.

britespark1 · 17/02/2024 11:43

Thanks for reading. I can't wait any longer as I am worried not only for myself but if this gene has been passed on to my children. It has dragged out for so long because he initially ignored the booking appointment offer and then tests have been "lost". So just when I think we are nearly there there is just another delay :-( I had no clue where to start so thank you, I'll look into a private geneticist.

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CJ4713 · 17/02/2024 12:12

Was your fathers appointment at the GP for the blood test or a specialist clinic in a hospital? Could you make an appointment with his GP on his behalf and say you'll go along too for support?
Have you checked whether he actually needs the testing done, before you can have it on the NHS?

britespark1 · 17/02/2024 12:44

He had a letter from the specialist genetics unit at the hospital telling him to arrange a blood test. The initial one was done at his GPs who then apparently lost it so he is now due to have another taken at the hospital itself.

Because of his delays I did contact the genetics unit myself and due to the family history they acknowledge I am higher risk and will refer me for early mammograms but are adamant I can’t have the blood testing done unless my DF is positive.

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Geneticsbunny · 17/02/2024 13:01

If anyone tests you without a sample from your father, there is a small chance you could get a false negative result. That is one of the reasons why the NHS won't test you until your father has been tested. I would just keep nagging him until he realises how important it is to you.

britespark1 · 17/02/2024 13:39

I didn't know that, thank you. Hopefully now it is being done at the hospital itself we will get somewhere. Finally.

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