Marfan gene sequencing in the UK
July 15, 2022 9:01 AM Subscribe
My first-degree relative has been diagnosed with Marfan syndrome. They have a genetic diagnosis (mutation in the FBN1 gene). My own GP has referred me onto several specialists to follow this up, but the wait to be seen is very long. I'd like to throw money at this and quickly get my FBN1 gene sequenced privately. Where can I have this done in the UK?
Searching "private practice genetic testing UK" or "self pay genetic testing UK" gives options in Harley Street and some USA/UK joint ventures as well as self-pay in the NHS system. Everythinggenetic may be specialized enough to help soonest.
If you are symptomatic or pregnant, make sure the clinic knows this since that may give greater priority in the scheduling or NHS approval. And be aware that even once the specimen is drawn and at the lab, results may take up to 4-6 wks to work their way back to you (lab to clinic to you via an in-patient visit is different than lab directly to you), though it could be as soon as 2 wks depending on where sent and if further expediting is possible.
Also not all methodologies will detect all FBN1 variants. A copy of the relative's report would ideally be available to help choose the best methodology and correlate with your relative's results, even through Promethease. At a minimum, they'll need to know what the relative's variant is in some type of medical documentation (clinic note, email from a clinician, etc).
posted by beaning at 10:40 AM on July 15, 2022 [1 favorite]
If you are symptomatic or pregnant, make sure the clinic knows this since that may give greater priority in the scheduling or NHS approval. And be aware that even once the specimen is drawn and at the lab, results may take up to 4-6 wks to work their way back to you (lab to clinic to you via an in-patient visit is different than lab directly to you), though it could be as soon as 2 wks depending on where sent and if further expediting is possible.
Also not all methodologies will detect all FBN1 variants. A copy of the relative's report would ideally be available to help choose the best methodology and correlate with your relative's results, even through Promethease. At a minimum, they'll need to know what the relative's variant is in some type of medical documentation (clinic note, email from a clinician, etc).
posted by beaning at 10:40 AM on July 15, 2022 [1 favorite]
Beaning is correct here. There are very few medical services that you can’t access immediately on Harley Street. It may not be cheap, but I’d be shocked if you couldn’t have your blood drawn and sent off within a day or two.
posted by Kreiger at 7:48 PM on July 16, 2022 [1 favorite]
posted by Kreiger at 7:48 PM on July 16, 2022 [1 favorite]
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23andMe probably isn't as reliable as what the specialists will do, but it will give you some data.
posted by gregr at 10:14 AM on July 15, 2022 [2 favorites]