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Complete Exome – Lorgen – Latin America

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:

  • Analysis of up to 4 pathologies from the list of most common pathologies.
  • Genetic counseling before and after performing the test.

 

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

  • Hereditary Cancer Study (breast, colon, neurofibromatosis, paraganglioma, medullary, gastric, etc.)
  • Genetic study Ataxias
  • Genetic study Charcot Marie Tooh disease
  • Genetic study Dementias/ALS
  • Dystonia genetic study
  • Genetic study Myopathies
  • Genetic study Epileptic Encephalopathies/Epileptic Disorders
  • Genetic study Family Spastic Paraplegia
  • Genetic study of Mitochondrial Disease, includes mtDNA and nuclear genes
  • Genetic study of movement disorders, CMT, Ataxias, HSP, Parkinson's, Dystonia, etc.
  • Genetic study Microcephaly/Macrocephaly/Cranial malformations
  • Genetic study Diabetes (Mody type included)
  • Genetic study Skeletal Alterations
  • Genetic study Ehlers Danlos disease and disorders of connective tissue
  • Genetic study Malformations/Alterations of brain development
  • Genetic study Parkinson's disease
  • Genetic study neurodevelopmental delay, Intellectual Disability, Autism, Dysmorphia, Glycosylation disorders, peroxisomal alterations, lysosomal alterations, etc.
  • Dysmorphic genetic study
  • Genetic study cranial alterations, brain development alterations, SNV alterations, epileptic disorders, neurodevelopmental delay (DI, TEA, Dysmorphisms, etc.), metabolic alterations.
  • Genetic study Cardiology, includes structural, vascular and cardiac conduction alterations
  • Genetic study Lung disease
  • Genetic study Ophthalmological disease
  • Genetic study Female/Male Fertility/independent of sex
  • Genetic study liver pathology
  • Genetic study Hearing loss
  • Genetic study Metabolic Disease
  • Genetic study Ciliopathies
  • Genetic study Immune system disease
  • Hematological genetic study
  • Dermatological genetic study
  • Nephrological genetic study
  • Genetic study Newborn sick or in the ICU (up to 24 months)
  • Genetic study Inborn errors of metabolism
  • Genetic study for Cerebral Palsy
  • Genetic study for Arthrogryposis
  • Genetic study for elevated CPK as the only symptom
  • STROKE genetic study
  • Genetic study for Short Stature (includes MLPA for SHOX gene)
  • Genetic study for Hypertension
  • Genetic study for Hypercholesterolemia
Laboratorio Lorgen

100% Secure payment

1.080,00 

Product Information

Request

Requirements

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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