CONTACT
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Enevia Health, LLC
30 N Gould Ste N, Sheridan, WY 82801, USA
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:
The results report includes:
In the header, we summarize the patient's information:
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.
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 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.
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.
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.
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
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
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.
URUGUAY
Doctor Antonella Fanetti De La Hoz
Office address:
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
ECUADOR
Doctor Oscar Castro
Contact person:
Enevia Health Coordinator in Ecuador: Doctor Oscar Castro
Mail: nutraautism@gmail.com
Schedule: 09:00 to 20:00
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.
We will reply as soon as possible.
30 N Gould Ste N, Sheridan, WY 82801, USA
Our groups are the ideal platform to learn and share your scientific concerns about neurodevelopment issues
*Our purpose is informational only, it is not intended to be a substitute for medical advice, diagnosis or treatment.
This plan is exclusive for people who are responsible for or suffer from some neurodevelopmental pathology such as (TEA, ADD, ADHD, OCD, SLI and other learning disorders, as well as Rett syndrome, Tourette syndrome, PANS, PANDAS , LYME…
With this plan you can benefit from discounts on more than 100 laboratory tests, medical visits, supermarkets and therapies and you will have access to all the tests with the BIGGEST possible discount.
Enevia Health, following its commitment to health and well-being, has created another membership designed for all those people who need these tests and want to benefit from the facilities offered by Enevia.
Subscribe to our HEALTH PLAN and start enjoying the advantages we offer you.
In this modality you will NOT pay annual membership, you will be able to buy on our website but you will not be able to benefit from the discounts that those people subscribed to one of our plans have.
We are working on our website. For any queries, you can contact our customer service team at atencionalcliente@eneviahealth.com