We did the Whole Genome Sequencing test!! Its going to be a long 12 week wait.. i’m trying to not think and obsess over the dates and days.. trying.
So.. the hospital’s genetic counsellor saw us when we admitted for the detailed hearing test under GA. I emailed her a couple of weeks ago to express my interest to do the WES since we are going to be admitted and so, drawing blood would be easier since a plug was going to be set for the procedure.
She came over and told me that WGS is being offered now in Singapore not as a clinical trial anymore. She explained also about the differences in cost (more expensive than WES) but how much more thorough it will be. She also kept highlighting that I MIGHT NOT GET A DIAGNOSIS.. the same with WES.. i think she really wanted to make sure that i have the mental preparation of being disappointed.
According to the image above. we are currently at step 5! The website of Genome One says that the testing takes 6-8weeks.. however, we have to consider the transfer of information between them and KKH so there will be delays. Our appointment is scheduled 13 weeks away. To be prudent. To minimize my unnecessary anxiety.
I am feeling positive about this. So far we have enough symptoms to point towards the direction of a genetic issue. The reasons for knowing is so that i know what to expect with the particular syndrome.. example, if heart is an issue? if speech will ever happen? What is the general stats of people with the same syndrome etc. And of course, to shut people up.