T-Gen®
It is whole genome sequencing with 60x coverage
The T-Gen® or analysis of the whole genome TISMOO, also called Whole Genome Sequencing (WGS), consists of an analysis of the data obtained from the complete sequencing of the 3 billion base pairs (“letters”) of the genome of the individual , with subsequent identification of genetic alterations associated with autism spectrum disorder and/or related syndromes by a transdisciplinary team of specialists. In this exam, the exons and intergenic regions will be analyzed.
TISMOO understands that the sequencing of non-coding regions can be important in the genetic interpretation of the clinical picture. With a view to better understanding the patient’s genetics, the sequencing of the complete genome can also be performed with their family members with differentiated coverage of execution and analysis.
TISMOO offers in T-Gen® 2 (two) sequencing possibilities:
1. Sequencing and full analysis of the patient and parents (somatic and germline mutations);
2. Sequencing and full analysis of the patient (somatic mutations);
1. Prepare for your appointment
In order to carry out the T-Gen, in addition to the medical request for the examination to be carried out with the desired quality, we will ask you to fill in a pre-registration with a clinical questionnaire (the documents can be filled in digitally or at the time of the consultation – to be combined with the Tismoo team).
Preparation
Pre-Examination – The collection must be performed by saliva. It is necessary to fast for 30 minutes, including water. See the instruction video.
For this exam, it may be necessary to collect samples of saliva from the parents when requested by the doctor accompanying the patient.
Sample types
The test is performed using saliva samples from the patient and, when requested, will also be collected from parents.
Collect
The collection can be carried out at your home using an exclusive Tismoo kit, which is sent by post to your address, and following the standard procedure recommended by Tismoo for collecting and sending the sample (see this vídeo).
Necessary documents
- Medical request
- Forms sent by Tismoo
Deadline
Up to 120 calendar days
If the exam is requested through a collection kit, the deadline for delivering the report is counted from the receipt of the sample by the Tismoo team.
Related diseases
The test can be used to diagnose genetic diseases of unknown origin or caused by one of hundreds of genes. The direction of the analysis is customized according to the diagnostic hypotheses and the patient’s clinical history.
Genes analyzed
All genes of the human genome and intergenic regions.
Technical information
With coverage of 60x, the genetic sequencing and analysis of the Genome – T-Gen® makes it possible to determine the exons, which are the sequences that give rise to the proteins responsible for cell metabolism; and also the intergenic regions of DNA, which are regions that regulate protein production. The decision to make T-Gen® is related to the genetic characteristics peculiar to TEA.
Quero fazer o exame!
Alameda Santos, 200 – cj.903 – Paraíso
São Paulo | SP | Brasil
CEP 01418-000
+55 (11) 93761-0013
+55 (11) 3587-1273
