Whole Exome – Neuroimmune Metabolic – Lorgen – Latin America

What is an Exome test?

The Exome test is a type of genetic analysis that sequences all the exons and adjacent intronic regions, for the more than 23,000 genes that code for proteins in the human species, and thus be able to identify genetic alterations associated with diseases.

Why is it important to have an Exome test?

It is estimated that approximately 85% of disease-causing genetic variants are found in the Exome. These studies allow us to identify disease-causing variants in genes that might be missed if we only use a traditional approach to genetic studies.

Personalization of Patient Treatment and Management:

• Targeted Treatment: Knowing the genetic etiology of the patient's condition allows therapeutic interventions to be personalized, thus improving the patient's outlook and quality of life. Furthermore, during our Pre-Test consultations, our team of geneticists may include in the study additional patient phenotypes, such as, for example, Neuromuscular alterations, Dysmorphies, Skeletal alterations, Epileptic disorders, etc.
• Comprehensive Management: Understanding the genetic basis allows for comprehensive treatment of the patient.
• Evaluation of the Immune and Metabolic System: There is increasing interest in studying immunological and/or metabolic dysfunctions in patients with neurodevelopmental pathologies. Exome testing can reveal genetic variants that affect these systems, which is vital for comprehensive patient management and to ensure that these areas are not compromised.

Exclusion of Genetic Diseases: 

Some genetic conditions can manifest neurological symptoms that resemble neurodevelopmental pathologies. Whole Exome testing allows these diseases to be identified or ruled out, which is crucial to avoid misdiagnoses and provide appropriate treatment.

Lorgen Laboratory Whole Exome Test

Center for Genetic Studies with more than 20 years of experience in clinical molecular diagnosis. The fundamental pillars of Lorgen GP are based on extensive experience, its own state-of-the-art technology, a team of highly qualified professionals, a wide portfolio of services in genetic studies, a constant development of research projects within its area of research. +D and direct advice for patients and specialists.

What makes the Lorgen Laboratory Exome different?

Extension of the classic autism phenotype to the NEUROIMMUNEMETABOLIC: In addition to the genes related to neurodevelopment, the Lorgen laboratory studies those genes related to the IMMUNE SYSTEM, the METABOLIC SYSTEM and the NERVOUS SYSTEM.

Quality guarantee: 

• Integrated Quality System: ISO 9001:2015, ISO 14001:2015 and ISO 45001:2018 certifications.
• Information Security Management System: National high level security scheme and ISO 27001, ISO27017, ISO27018, ISO27701, ISO20000-1 certifications.
• Accreditations: ISO 15189:2012 for Next Generation Massive Sequencing (NGS) studies in Hereditary Cancer and Exome studies, studies for deletions/duplications using MLPA technique and classical Sanger type sequencing study.

The Lorgen Laboratory analyzes more than 5,000 genes in depth, which facilitates the identification of genetic variants linked to these pathologies, improving diagnosis, prognosis and possible treatment options.*

Exome Report – Lorgen

Lorgen provides a detailed report that will include clinical interpretation of the pathological and variants of uncertain significance found for the Prescribing Professional.

The prescriber can consult with the team of geneticists if they have any questions and thus the treating doctor can develop a personalized clinical medical plan, according to the results of the test.

How is the Exome Test report structured?

1. Reason for study
2. Description
3. Result: Explains the variants found detailing: (Inheritance, Zygosity, HGVSc/HGVSp, ACMG Classification, consequence, dbSNP ID, coverage, etc.) 
4. Conclusions: each of the variants found is explained, providing detailed information on the alterations that are related to each gene.
5. Methodology
6. recommendations
7. Important notes
8. List of genes studied
9. Bibliography.