What is Exome?
Exome is a genetic diagnosis test conducted to detect changes in the DNA in approximately 20 thousand genes of the human genome.
When and Who is it Recommended to?
The Exome is recommended for symptomatic patients without diagnosis with suspected intellectual disability, delayed neuropsychomotor development, autism, congenital malformations, among others.
The CNV and Mitochondrial DNA analysis are usually not evaluated and, when evaluated, there can be charges.
*The clinical exome test is a panel which evaluates the presence of clinically relevant variants in genes previously related to diseases. The number of evaluated genes ranges between 5000 and 6000 genes, according to the laboratory which conducts it.
The first laboratory in Brazil to detect CNVs through the NGS technique
How was the CNV detection validated through the NGS (Next Generation Sequencing) technique?
To include the CNV analysis in the exome, Mendelics team conducted an extensive laboratory comparison between the MLPA data, the technique recommended for CNV detection, and NGS. Based on the comparative testing of more than 8100 samples, our bioinformatics team developed the CNV analysis and detection algorithms from the NGS data. The validation conducted in the laboratory itself, without depending on external algorithms, guarantees the quality (reproducibility, precision and sensitivity) of the NGS results.
Detection of DNA changes in the nuclear and in the mitochondrial genomes.
Why is it important to conduct the Mitochondrial DNA variants analysis in the exome?
The mitochondria has its own DNA containing 37 genes. The mitochondrial diseases can be originated by changes to the nuclear and mitochondrial genome genes. Changes to the nuclear genome genes are commonly detected by the exome in several laboratories, however, a negative result in such test does not exclude the presence of a pathogenic variant in the mitochondrial genome. In case the hypothesis of mitochondrial disease persists, it’s necessary to complement the exome analysis by conducting a mitochondrial disease panel test which evaluates changes to mitochondrial genes.
Reanalysis of Exome data
What’s the importance of reanalyzing the Exome data with non-conclusive or negative results?
The Exome test data analysis is based on the scientific and clinical knowledge at the time the report is issued. Every year, new findings in the Genetics area emerge and are made available in medical magazines or in databases. Thus, genetic variants that are present in the patient sample, but had not been described in the original report, may gain clinical importance in the light of new findings. For this reason, it’s recommended that non-conclusive or negative Exome results are re-evaluated every two years or in face of any new evidence. A new sample collection is not required for the Exome reanalysis, once it involves the full reprocessing of the gross data of the original test, the bioinformatics steps and the medical analysis. However, it’s important that the physician sends updated clinical information.
Pioneer in Brazil and in Latin America
The first and the largest laboratory focused on genomic analysis in Latin America.
The largest database of Brazilian and Latin American variants, with more than 100 thousand genetic tests conducted.
International Quality Certifications
The only Brazilian laboratory specialized in genetics with CAP, PALC and ISO, the main international certifications.
Agility to deliver the reports
Proprietary software with artificial intelligence for genetic data analysis, MIT award winner for innovation.
How does it work?
Collect saliva at home (Oral swab) or blood in a laboratory (EDTA tube)
Send the collected sample to our laboratory
Check the progress in real time and access the tests results online
How to Request the Kit?
Swab Collection Kit
The oral mucosa collection with a Swab tube is as efficient as the blood collection. The patient or responsible may conduct the collection in his/her own home, in a practical and fast way, following the instructions which accompany the Kit.
The only required preparation is the oral hygiene followed by absolute fasting during 30 minutes before the collection.
The collected sample is stable for 1 month at room temperature.
EDTA Collection kit
The blood collection of 4 mL in an EDTA tube (known as the purple cap tube) can be conducted in any laboratory. No preparation is required. The collected sample is stable from three to four days, even under room temperature.
Collection at the lab
Patients in São Paulo also have the option to perform the test at Mendelics.
Check the health plan operators available
Do you have any doubts?
Find answers for frequently asked questions we selected to assist you.