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Detection of polymorphisms – MTHFR Gene – Lorgen – Latin America

The test for detection of p.C677T and p.A1298C polymorphisms in the MTHFR gene is a genetic analysis that is done to identify specific variations (polymorphisms) in the MTHFR gene (methylenetetrahydrofolate reductase). 

This gene plays a crucial role in folate metabolism, a type of B vitamin that is important for DNA synthesis and repair, as well as methylation, a process essential for gene expression and nervous system function.

What are the p.C677T and p.A1298C polymorphisms?

The p.C677T and p.A1298C polymorphisms are two of the most studied variants within this gene. These variations can lead to reduced activity of the MTHFR enzyme, affecting the body's ability to process folate and homocysteine, an amino acid whose elevated levels They are associated with an increased risk of cardiovascular disease, thrombosis and complications in pregnancy, including neural tube defects in the fetus.

  • Polymorphism p.C677T (rs1801133): This variant involves the substitution of a cytosine (C) for a thymine (T) at position 677 of the gene. The presence of the T variant can decrease the activity of the MTHFR enzyme by up to 35% in heterozygotes (CT) and up to 70% in homozygotes (TT), which can lead to elevated levels of homocysteine in the blood, especially if the intake of folate is low.
  • Polymorphism p.A1298C (rs1801131): This variant involves the substitution of an adenine (A) for a cytosine (C) at position 1298 of the gene. Although the impact of this variant on enzyme activity is less pronounced than that of p.C677T, the presence of two copies of variant C (in a homozygous state) may also contribute to increased homocysteine levels and a decrease in availability. of folate.

 

Who is this test useful for?

The detection of these polymorphisms is carried out through sequencing analysis. This analysis It is relevant for individuals with a history of cardiovascular diseases, thrombosis, pregnancy complications, either those seeking genetic guidance for family planning. Identification of these polymorphisms may guide decision making related to folate supplementation and risk management for associated health conditions.

Laboratorio Lorgen

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Requirements

Instructions

Ahem. Report

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: 15 business days

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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