GenomeDx | Whole Genome Sequencing for accurate diagnosis

GenomeDx

Whole Genome Sequencing for accurate diagnosis

GenomeDx with Diagnostic Interpretation is an optimal tool for genetic diagnosis in complex patients, through the sequencing of the whole genome and its subsequent interpretation, oriented to the clinical signs and symptoms of the patient.

Who is it for?

GenomeDx with Diagnostic Interpretation is recommended for patients with a complex medical history or symptoms that suggests 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. Veritas is a pioneer in offering the GENOME study in TRIO with the aim of maximizing the diagnostic performance of patients. Although the study of parental samples is carried out, they will only be analyzed in order to interpret the result of the proband/patient, without issuing additional reports

What is included in the service?

Innovative diagnostic service and leader in its area.
The analysis of the genome has evidenced to offer higher diagnostic performance than exome-based tests.
Collaboration with Children’s Hospital of Philadelphia for the interpretation of patient results, maximizing diagnostic performance.
Expert service in analysis and classification of the relevant variants in each clinical case.
Confirmation of pathogenic and probably pathogenic variants in the patient if necessary.
Option to additionally request ACMG59 analysis.

How is the process?

The specialist prescribes myGenome 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 or her when appropriate.