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Exoma Trio – Lorgen – Latin America

The classic exome-trio diagnosis is carried out to diagnose an affected patient with unaffected parents. Inclusion of both unaffected parents in the analysis greatly increases the chances of diagnostic success.

Includes genetic counseling before and after testing.

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. 

Laboratorio Lorgen

100% Secure payment

2.085,00 

Product Information

Request

Requirements

Instructions

Ahem. Report

Consent

Analysis laboratory

lorgen

Laboratory/Entity of your country

You have to contact the collaborating entity you want from your country:

Argentina:

Laboratory IICT LABS

Autism Bioapproach Foundation

Ecuador: 

Doctor Oscar Castro

Peru:

GFG Laboratory

Uruguay: 

Doctor Antonella Fanetti

 

If there is no collaborating laboratory in your country, you can coordinate the shipment of the kit with the Enevia Health customer service team at atencionalcliente@eneviahealth.com

Type of sample

Venous blood

Results delivery time

Since the laboratory receives the sample, 8 weeks

Test mode

home kit

Collection of results

The Laboratory sends the results by e-mail to the patient.

Additional shipping costs

Argentina: 200 USD 1 kit
Peru: 180 USD. - Shipping prices vary depending on the dollar rate
Uruguay: Consult with the collaborator.
Ecuador: Consult with the collaborator.

customs management

Does not require

Collaborating laboratory/entity

ARGENTINA

Laboratory IICT LABS
1220 Miter Street
S2000BHX
ROSARY BEADS
SANTA FE, ARGENTINA.
+543414484517
www.iictlabs.com
iict@iictlabs.com
CUIT: 33-70874216-9

Contact person:
Coordinator Franco Pongelli
+543413201729
fpongelli@iictlabs.com

Logo Laboratorio GFG Perú

Collaborating laboratory/entity

PERU

GFG Laboratory
El Sauzal Passage. 105 Urb. Los Sauces
(Alt. block 8 av. 8 av. Villarán)
Surquillo, Lime
Peru
+51 989 692 828

Contact person:
Coordinator of Enevia Health in Peru Giovanna Bejerano
+51 983 514 369

Address of attention: Av. Benavides 2426 office 202 Miraflores. Lima 15048
Opening hours: Wednesdays 10:30 am to 12:30 pm.

 

Doctora Antonella Fanetti De La Hoz

Collaborating laboratory/entity

URUGUAY

Doctor Antonella Fanetti De La Hoz

Office address:

  1. Montevideo-Carrasco MIRAFLORES 1464, Uruguay
  2. Colonia del Sacramento ALBERTO MENDEZ 120, Uruguay

Contact person:

Doctor Antonella Fanetti De La Hoz

Contact number: +598 99 728 557

Mail: antonellafanetti@gmail.com

Hours: 9:00 AM to 3:00 PM

Collaborating laboratory/entity

ECUADOR

Doctor Oscar Castro

Contact person:

Enevia Health Coordinator in Ecuador: Doctor Oscar Castro

Mail: nutraautism@gmail.com

Schedule: 09:00 to 20:00

Logo Bio Abordajes del Autismo

Collaborating laboratory/entity

ARGENTINA

Autism Bioapproach Foundation:
Department 1ºC
Juan Agustin Garcia 2780
(1419) Villa, Santa Rita.
CABA, Argentina

Reports: autismobio@gmail.com
+54 11 6825-8726
Studies: bioabordajesdelautismo@hotmail.com
+54 11 5062-0709

Contact person:
adriana peralta
Biomedical nutritional advice
Master of Disability
President of the Autism Bioapproach Foundation.

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