Genetics Update

Miss M’s latest genetic test was negative, meaning they didn’t find a mutation in the specific gene they sequenced (GDF6), so they still have not found a genetic cause for her Klippel-Feil syndrome.  There is one other genetic mutation (GDF3) which has been associated with KFS, but clinical testing for this is not available in the US.  And, of course, there are likely many unknown genetic mutations which could lead to KFS.

Our only other option for genetic testing right now would be to do whole exome sequencing.  Since KFS is pretty well defined as her “diagnosis”, there is really no pressing need to do further genetic testing so we will probably just keep that in mind for some point in the future when the tests are better and less expensive, just for her own peace of mind.

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: