Tests
Our genetic tests to personalized medicine
We offer 3 different possibilities of genetic sequencing.
The genomic array (CGH-Array) is a test capable of identifying chromosomal deletions and duplications. It assists in identifying regions of absence of heterozygosity, and its findings may aid in the diagnosis of developmental disorders.
Exome sequencing with 100x data coverage, also called WES (Whole Exome Sequencing), is the sequencing of exons, regions that correspond to 1-2% of the complete genome. Currently, 85% of these regions are related to altered health conditions.
Whole genome sequencing or WGS (Whole Genome Sequencing) with 60x data coverage. This sequencing allows the reading of the entire DNA, making it possible to determine the exons (regions that give rise to proteins and other molecules responsible for the functioning of the organism) and the intergenic regions of the DNA.
The genetic tests carried out at Tismoo rely on a bioinformatics platform, specially built for autism, called GENIOO, which works as a complete database on the most relevant scientific publications related to Autism Spectrum Disorder. After carrying out the state-of-the-art genetic mapping, our platform compares the results of the genetic variants found in the patient with databases from around the world in order to identify and classify these variants, in addition to also verifying if there is already a more appropriate treatment for that one. mutation. And yet, as this service is continuous, in case new research or tests appear, this tool allows us to update the doctor and the family of the patients*.
* Tismoo24/7 – Exclusive Tismoo technology