Veragene Nipt Espande a 100 Malattie Monogeniche l’Affidabilità dei Risultati

NIPD Genetics announced that VERAgene, the first comprehensive non-invasive prenatal test (NIPT) for aneuploidies, microdeletions and monogenic diseases has been expanded to cover 100 single gene autosomal recessive and X-linked diseases. VERAgene offers a complete picture of the fetus’s health as early as the 10th week of pregnancy. It is built on NIPD Genetics’ powerful proprietary technology platform that has been validated in several studies, and is trusted for its accuracy and precision.

Prof. Philippos Patsalis, founder and CEO of NIPD Genetics, stated that “VERAgene was created out of the need to fill a gap in prenatal screening services to detect monogenic diseases that cannot be otherwise detected using conventional prenatal screening. Its significant clinical utility as well as the powerful technology platform upon which it was designed and developed, have earned VERAgene international recognition as an innovative, accurate and high-performance test. It truly opened a new chapter in the field of prenatal screening”.

VERAgene test prenataleVERAgene is the only non-invasive prenatal test that can simultaneously screen for aneuploidies, microdeletions and single gene diseases. The new VERAgene monogenic diseases panel can identify 2000 genetic mutations in 99 genes to screen for 100 autosomal recessive and X-linked diseases. Most of the monogenic diseases screened by VERAgene do not have biochemical or ultrasound biomarkers and the risk is not associated with maternal age.The diseases screened by VERAgene are associated with moderate to severe phenotype with significant impact on the quality of life. By combining detection of aneuploidies and microdeletions with the screening of monogenic diseases, VERAgene provides a comprehensive solution to prospective parents. It informs healthcare providers and expecting parents on the risk of the fetus to have a disease and helps them take informed decisions regarding pregnancy management and therapy.

VERAgene requires a simple blood sample from the mother and a buccal swab sample from the biological father. The samples are shipped to NIPD Genetics central laboratory for analysis. The cell free DNA of the biological mother and the fetus, as well as the DNA of the biological father are analysed using proprietary bioinformatics software to compute the fetal risk for having a genetic disease. The results are sent to the doctor through a secure portal within 7 days.

In recognition of its technological innovation and clinical utility, VERAgene NIPT received the National Innovation Award by the European Business Awards and the National Innovation Award in the Manufacturing Sector by the Cyprus Employers and Industrialists Federation (OEB) in 2019.