EXONIM® PRENATAL TARGETED
Based on sequencing the 19,000 genes of the whole exome, ExoNIM® Prenatal Targeted allows us to perform a targeted analysis of selected genes according to the fetal phenotype.
This approach offers a greater diagnostic yield, as it allows us to extend the study to ExoNIM® Prenatal Trio through parallel sequencing of the parents, if required.
Carrying out a preliminary study of the genes being analysed is essential in order to evaluate coverage and rule out the presence of homologous regions in the selected genes.
These tests are indicated in:
- Pregnancies with defined phenotypes.
- Genetic evaluation of fetal remains.
- Recurrent miscarriages with similar phenotypes.
If a variant is identified in the prenatal sample, NIMGenetics will perform the necessary segregation analyses to determine the inheritance pattern, confirming or ruling out its association with the phenotype.
Turnaround time: 20 working days from receipt of the sample.
Reference: Check here
Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.