NIFTY Pro
Since 2024, NIFTY has been offering an additional testing option called NIFTY Pro. In addition to NIFTY's ten syndromes, it is possible to screen for 92 further medical conditions.
Detailed and Comprehensive Information for Expectant Mothers
The NIFTY Pro package includes 92 deletion and duplication syndromes, offering expectant mothers even more comprehensive information than before.
These deletion/duplication syndromes have not simply been added to the existing panel (Plus); rather, they have been carefully selected based on multiple criteria (such as disease severity and clinical significance). As a result, some syndromes included in the Plus package have been excluded from the Pro package.
A validation study for detecting copy number variations (CNV-s) using low-depth whole-genome sequencing has been conducted.
The sensitivity for detecting deletions/duplications is as follows:
- 88.89% for deletions/duplications larger than 10 megabases (Mb)
- 72.73% for deletions/duplications smaller than 10 Mbp
Learn more about NIFTY PRO