Exome Test

[Moosecake]

Has anyone got an experience with doing an exome test?

One of my prospective new clinics (in Cyprus) has suggested me getting tested before we start any treatment. Just to be helpful, another prospective clinic has suggested not doing it though 🙄

Never heard of it before and didn’t catch a clear explanation. However, after some googling, I’m thinking it’s the test to see if you’re a carrier for anything (what you’d do before PGT-M?). If that’s true, seems odd my partner hasn’t been asked to test himself too.

A quick search seems to show it’s hard to get tested somewhere. Saw one asking £600 ish, £1200 for both you and partner 😮

If you have had it done, did you get it done in the UK or somewhere abroad?

Thank you!

[ChocoMuffin]

Hi Moosecake, is there a genetic condition that runs in your family? If there isn’t, then asking for genetic tests right from the start seems a bit much!

I haven’t had the exome test done but my clinic in Spain requested we get the karyotype test done (I checked with other Spanish clinics as well and they all tend to ask for this test as part of their basic fertility testing). The karyotype looks at the size, shape, and number of chromosomes and is much more affordable (if doing it abroad as still quite expensive in the UK!)

[Endofitall in reply to ChocoMuffin]

I agree with ChocoMuffin. Exome testing seems very experimental. I believe there are some papers about using it to assess risk of aneuploidy in the female partner but I don’t think there’s any robust evidence.

We had karyotyping done for both of us at UK clinic (at a stage where we’d never had any hint of a pregnancy but already many failed transfers just in case we had a translocation or something stopping us conceiving at all). But exome testing seems very out there.

[Moosecake]

Thanks for the replies. It was my partner they spoke to so didn’t hear it first hand myself. He said they suggested a karyotype test or exome. I assumed they were one and the same but maybe not by the sounds of it. Guessing they’re just suggesting karyotype test for me then. And no, no genetic illnesses in the family I know of. We’ve had low rates of fertilisation in past, despite good sperm with good sperm fragmentation too, so I’m guessing that’s why they may have suggested the test?

Do you know if any clinic would test for it in UK or does it need to be a more specialist place? Also do you mind sharing the rough cost?

[ChocoMuffin in reply to Moosecake]

We had our karyotype tests done in Barcelona - it’s just a blood test but the result takes a few weeks (4 weeks I think?). We paid 90€ each but it depends on the lab. Are you planning on going to Cyprus or anywhere abroad soon? If so, I would strongly recommend to do the karyotype (and indeed any other tests!) abroad as they’ll be significantly cheaper than in the UK (in London the cheapest I could find was from £320 upwards).

[Moosecake]

Wow! Huge price difference. If we decide we need it done, we’ll definitely arrange it in Cyprus rather than the UK then. Thank you

[Whatwillbewillbe_]

we have done both karyotype testing and genetic carrier testing in the UK. karyotyping was about £500 per person and carrier testing was £1500 for the two of us.

[Moosecake in reply to Whatwillbewillbe_]

Thank you for sharing that. Do you mind explaining the basic difference between the two tests to me? Still a bit confused as to what they’re actually for!