Abnormalities detected by NACE®
- The three most common chromosomal abnormalities, trisomy 21, 18, and 13:
- It also identifies potential problems in sexual chromosomes:
- It reports about 80% of all chromosomal abnormalities detected in invasive prenatal diagnostic tests*.
* Wellesley et al.2012: Eur J of Hum Gen. 11 January 2012.
Syndromes detected by NACE® Extended 24*
- 22q11.2 syndrome (DiGeorge syndrome, Velo-cardio-facial syndrome)
- 1p36 deletion syndrome
- Angelman syndrome* (15q11.2 deletion syndrome)
- Prader-Willi syndrome* (15q11.2 deletion syndrome)
- Cri du chat syndrome (5p- syndrome)
- Wolf-Hirschhorn syndrome (4p- syndrome)
* The microdeletion region is the same for Angelman and Prader-Willi syndromes (15q11.2). The NACE® Extended 24 test cannot distinguish between these two syndromes. An additional test is required to confirm the syndrome in question.