ExomeDx | Whole Exome Sequencing for an accurate diagnosis

ExomeDx

Whole Exome Sequencing for accurate diagnosis

ExomeDx facilitates the genetic diagnosis through the sequencing of the whole EXOME and its interpretation, oriented to signs, clinical symptoms and the patient’s family history.

Who is it for?

ExomeDx is intended for patients with a complex medical history or symptoms suggestive of a genetic disease, even when other tests results have been negative. The objective of the test is for healthcare purposes, seeking to guide treatment decisions and clinical management options, facilitating the patient’s prognosis when possible.

Complete study

It is highly recommended that biological samples from the parents be analyzed if available, as they can be helpful in interpreting the genomic data of the patient. Although the analysis of the parental samples is carried out, they will only be studied in order to interpret the result of the patient/proband, without issuing additional reports. If you want to send samples of other blood relatives, please contact us.

What is included in the service?

Optimized design to improve coverage and homogeneously sequence the whole exome.
100x medium coverage for the full exome.
More than 19,300 genes covered.
>97% of the exome covered at >20x reaching >99% in key genes in diagnosis.
Bioinformatic pipeline designed by the Sanger Institute for classification of variants. This software has been chosen as a reference tool by Genomics England for diagnostic decision services in the 100,000 Genomes Project, an international leadership initiative in Genomic Medicine promoted by the NHS (UK National Health Service).
Optional analysis of ACMG59 genes.

How is the process?

The specialist prescribes myExomeDX with Veritas Diagnostic Interpretation.
The patient or legal guardian reads and completes the Informed Consent.
The specialist provides the patient’s clinical and family history to the Veritas clinical team.
A sample of blood or saliva is collected from the patient and sent to the laboratory.
Veritas performs DNA sequencing and diagnostic interpretation based on the patient’s personal and family history.
Veritas sends the results report to the specialist.
The Veritas clinical team is at the disposal of the specialist to advise him when appropriate.