thanks Jen!

 

as we live in France, we did the testing in what our doctors said is the most specialized genetic lab for this analysis, they handle this kind of genetic testing for the whole of the country. We have been receiving updates almost on a daily basis: this first batch of common anomalies is negative, this second batch of less common anomalies is negative, this third batch... and so on.

I do not know if the full sequencing of 21 type has been done, but at this point our doctors said the probability of finding anything relevant on 21 was practically zero (that leaves maybe the door open for the last test of the last batch..), they are looking for other sources of her adrenal insufficiency which might explain her current handling of the treatment and general test levels.  

 

 

thanks again,  and best of luck

 

robert