myExome with Diagnostic Interpretation is a genetic test that uses Whole Exome Sequencing (WES) and its diagnostic interpretation to help identify conditions that may a genetic origin.
Who is this test for?
myExome with Diagnostic Interpretation is for patients with a complex medical history or symptoms that suggest a genetic disease, even when other genetic tests have been negative. Through the result patients can know variants that explain the symptoms of their disease. The results may have implications for treatment decisions or prognosis, for medical management options, as well as affect other family members. This test is available for adults (> 18 years) and for minors with the consent of the parents.
It is highly recommended that the biological samples of the parents be analyzed if they are available, since they can be of help in interpreting the patient’s genomic data.
For the Diagnostic Interpreting Service Veritas collaborates with the Children’s Hospital of Philadelphia, a specialized center with extensive experience in genomic diagnosis, with international prestige.
- Whole Genome Sequencing in illumina HiSeq X10 and NovaSeq 6000 platforms.
- Veritas complies with the LDT (Laboratory Developed Test) regulation and the test is performed in the CLIA laboratory (CLIA # 22D2089381).
- The classification of variants is carried out according to the guidelines of the American College of Medical Genetics and Genomics (ACMG).
- Pathogenic and probably pathogenic variants are confirmed with Sanger sequencing.
- Large deletions and duplications, repeated expansions, certain inversions and deletions, translocations, and large structural rearrangements are not detected.
- Only inherited variants (germ line), non-somatic variants, mosaicisms or heteroplasmy are detected.
Why Veritas Intercontinental?
Veritas is The Genome Company. Our goal: to make the human genome accessible, so that the specialist can help the patient to maximize the quality and duration of his life and that of his family. As the first company to introduce complete genome sequencing and its interpretation for healthy people and their specialists, we maintain the scientific and technological leadership in this field, thus reducing the cost of the genome. Founded in 2014 by leaders in genomics at Harvard Medical School, Veritas has been recognized twice by MIT Technology Review as one of 50 Smartest Companies in 2016 and 2017, by Fast Company as one of the most innovative healthcare companies and by CNBC as one of the Disruptor 50 Companies in 2018.
What makes the difference?
- Highly uniform sequencing coverage with spike-in method of additional probes for specific regions.
- Medium sequencing coverage of 110x and 97% bases covered at> 20x.
- Detection of variants with a sensitivity and analytical specificity of> 98% and> 99.9% respectively, with a precision of> 99.9%.
- The test covers more than 19,300 genes, incorporating specific probes to improve the coverage of genes.
- The classification of the variants is done with a proprietary bioinformatic pipeline, reviewed by our expert clinical team.