Exoma Trio – Lorgen – Latin America

The exomes of the parents and the index patient are sequenced, which allows a comparative analysis that allows us to increase the success of the diagnosis. 

Exome-trio is particularly cost-effective, because the number of variants to be evaluated is minimized and numerous and costly segregation analyzes of individual variants are avoided.

Recommended for:

• Patients with complex, non-specific and rare diseases.
• High probability of identifying the genetic cause of the patient's disease.
• Comparison of patients and parents, possible analysis of additional family members (eg, siblings)
• All-inclusive expertly crafted design: covering all coding genes, flanking intronic regions, and loss or gain of genetic regions (CNVs).
• Average diagnostic coverage >100x with high uniformity
• Bioinformatics: detection of de novo variants, compound heterozygotes, x-linked variants and homozygous variants.
• Interpretation includes sequence variants (single nucleotide variants (SNVs) in small insertions/deletions (INDELs)), single and/or multiple exon copy number variants (CNVs), and combinations of sequence number and sequence variants. copy (SNV + CNV, INDEL + CNV),
• Each report is written and approved by experts: we have more than 20 years of experience using NGS data for genetic diagnosis.

The results report includes:

• Information of the patiente:

In the header, we summarize the patient's information:

1. Name, sex, external identification.
2. Sample source and receipt date
3. Internally assigned patient ID
4. Suspected diagnosis or indication for molecular genetic testing.
5. Test requested.

• Results:

This part summarizes the genetic changes identified according to the ACMG guidelines, tabulated and ordered by relevance to your disease.

You will find a table that addresses the most likely causative variants and provides information on zygosity, inheritance, allele frequency in the population, in silico prediction, and our classification. We also report possible pathogenic variants and uncertainty variants. Significance (VUS) potentially causing the patient's phenotype. The CNV findings and the quality of the CNV analysis are explicitly described.

• Interpretation:

We summarize the current state of the scientific literature for the variants found. We explain and describe the detected variants and affected genes in detail and how they contribute to the patient's phenotype. The more clinical information the doctor provides, the more accurate our evaluation will be.

• Variants of unknown meaning:

Variants that have an unclear association with the suspected diagnosis. For each variant of unknown significance (VUS), we provide information on published data, frequency in the normal population, and pathogenicity predictions given by various algorithmic predictions. These data are used to assess possible changes in the function of the expressed protein.

• Genetic relevance:

We explain the inheritance pattern of the patient's disease; the likelihood that other family members will be affected, the risk of recurrent disease in the family, and the extent to which other family members may be unaffected carriers.

• Recommendation:

Clinical recommendations are given to the referring physician. These are, for example, additional diagnostic options for the patient (in case of a negative report), possible therapeutic approaches based on the patient's pathogenic genetic variant(s), or more molecular Genetic testing for affected and unaffected family members (eg segregation analysis).

This test includes two genetic counseling consultations, one before carrying out the study and another after carrying out the study. Consultations last 45 minutes.