CONTACT
We will reply as soon as possible.
Enevia Health, LLC
30 N Gould Ste N, Sheridan, WY 82801, USA
Exome sequencing provides information about protein-coding genes and identifies changes in the DNA of these genetic regions. It is a cost-effective solution to diagnose genetically complex and undiagnosed cases with high diagnostic yield.
Includes genetic counseling before and after testing.
For certain patients, the combination of symptoms does not allow the doctor to identify a potential diagnosis. In such challenging cases, a stepwise diagnostic strategy is often chosen, making testing complex, tedious, expensive, and often not even conclusive. In addition, a late diagnosis can have a significant impact on the patient's treatment and quality of life.
For these cases, the use of WES has advantages over initially more specific genetic tests. While such targeted genetic testing focuses on a single gene or a limited set of predetermined genes, Whole Exome (WES) testing examines protein-coding regions in the genome (exons) simultaneously. It is estimated that the majority of disease-causing mutations (around 85%) are located within exons.
This lack of bias also makes it possible to identify disease-causing variants in genes that would be missed with specific approaches.
LORGEN GP's full exome sequencing service offers an accurate and cost-effective one-step solution with high diagnostic throughput.
It includes:
What is analyzed in this test?
Analysis by ultrasequencing (NGS) of the adjacent exonic and intronic regions for the detection of point variants and possible copy number variations (CNV).
Changes in the genes associated with the selected clinical phenotypes are analyzed and prioritized, as well as pathogenic and probably pathogenic changes detected in the more than 23,000 genes that could be associated with the patient's phenotype.
Possibility of combinations
The specialist or patient may direct the exome towards one or more of the
the pathologies mentioned in the list of the most common pathologies or the pathology indicated by the specialist.
In the event that you want to add more pathologies to the 4 already included in the test, each extra pathology will have an additional cost of 50 EUR. To add pathologies to this test, you must inform Enevia Health.
List of most common pathologies
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