Fetal structural anomalies are found in up to 3% of all pregnancies following routine prenatal care ultrasound screening1.
A diagnosis is difficult due to limited phenotypic information, but it is crucial to gain information about disease prognosis. The Prenatal ExomeXtra® analysis assists in such cases by identifying the genetic cause of the disease.
The human exome contains all protein-coding regions (exons) of about 23,000 genes in the genome. The exome makes up only about 1-2% of the whole genome, but close to 89% of all known disease-causing mutations are located within the exons. In addition, our proprietary design also covers more than 38,000 non-coding variants described as diseaserelevant in the databases HGMD and ClinVar.
Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!