the_rck: (Default)
the_rck ([personal profile] the_rck) wrote2016-11-16 02:01 pm

(no subject)

Damn. I just got my copy of the genetics report for cancer risks. It doesn’t actually tell me if I have the 'likely benign' PALB-2 variant that my sister has because they don’t bother reporting anything that they think is benign. One of the points of this exercise was to find out whether or not I have that specific variant. I could have variants on every gene tested, as long as someone in the US had labeled it benign, and never know.

::sighs:: I’ll see if the genetics counseling people have that information and if I can pry it out of them. I kind of suspect they won’t want to tell me.
heavenscalyx: (Default)

[personal profile] heavenscalyx 2016-11-16 07:50 pm (UTC)(link)
Ask them for the data instead of the report. If it was full sequencing, they may hand you a hard drive (those files can be upward of 100GB). If it was a SNP analysis, it should be a smallish file. Either way, I know a few tools one can use to look at this stuff.
lunabee34: (Default)

[personal profile] lunabee34 2016-11-16 08:18 pm (UTC)(link)
That is frustrating. :(

[identity profile] brunettepet.livejournal.com 2016-11-16 09:23 pm (UTC)(link)
Well, drat. Hopefully they'll share the information.
desdemonaspace: by <lj user="Teragramm"> (Default)

[personal profile] desdemonaspace 2016-11-17 12:43 am (UTC)(link)
I hope it's good news, or at least neutral.