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Monday, February 1, 2010

TMAU genetic testing in Spain



This lab looks for mutations in the FMO3 gene, and if they cannot find any, they proceed to look at other TMAU or other body odor related genes: SLC22A1, DMGDH, SDH, FMO1.We are most grateful to a member of our community, Natalia (Nata_80/Jersey), who has done us the favor of obtaining important genetic TMAU and FMO3 testing in Valencia, Spain, at the Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitario, Fundación Investigación Clínico de Valencia (INCLIVA) headed by Dr. Javier Chaves. Nata relays the following information:


This clinical hospital in Valencia is doing genetic analysis of this condition [TMAU]. It also accepts and analyzes samples from other countries.

The lab looks for mutations in the FMO3 gene, and if they cannot find any, they proceed to look at other TMAU or body odor related genes: SLC22A1, DMGDH, SDH, FMO1.

These tests require a physician referral (public or private, who would need to assume the cost of these tests)…

Contact information:

Unidad de Genotipado y Diagnóstico Genético
Fundación Investigación Clinico de Valencia-INCLIVA
AVDA Blasco Ibañez 17
Valencia 46010
telefono: 963862664
fax: 963862665
email: a.barbara.garcia@uv.es


PLEASE NOTE that TMAU urine tests are not done here, although measures to set up this type of test are underway. Normally, in the TMAU diagnostic process, the urine is tested first, and if there is an excess of TMA, the gene test is then performed. I don’t have any knowledge of other labs in Spain that do urine tests. However, there are labs in other European and American countries. Perhaps they will receive samples from other countries.


Additional information provided by Ana Barbara Garcia of the Unidad de Genotipado y Diagnóstico Genético [The Genotyping and Genetic Diagnostics Unit]:

Yes, we perform genetic diagnosis of trimethylaminuria. However,
samples should be sent from a hospital or medical practice.

The procedure of this diagnosis involves 3 steps, although you
may decide to perform all of them or only the first:

1- FMO3 gene analysis: Most mutations responsible for the disease have
been described in this gene. The cost of this analysis is (350€)

2- If no mutations have been found in step 1, we propose to analyse 2
other genes, where some mutations have been found: SLC22A1 (500€) and
DMGDH (600€).

3- If no mutations are found: we propose to analyse 2 genes. They have
a role that make them good targets responsible for the disease:
SDH (750€) and FMO1 (400€)


If you are interested, I would email your medical doctor the instructions and all the documents that should be filled.


Thank you very much for your interest.

Sincerely:

ANA BARBARA GARCIA

********************************
ANA BARBARA GARCIA GARCIA

Unidad de Genotipado y Diagnóstico Genético
Fundación Investigación Clinico de Valencia-INCLIVA

AVDA Blasco Ibañez 17, Valencia 46010

telefono: 963862664
fax: 963862665
email: a.barbara.garcia@uv.es


En español

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