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Prueba del talón ampliada. Cribado de metabolopatías en recién nacidos

EXPANDED NEWBORN BLOOD SPOT SCREENING (HEEL PRICK TEST)

One out of every 1,500 babies will be born with a metabolic disease. You can prevent this.

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About metabolic diseases

Metabolic diseases are diseases that affect the way in which the body processes certain foods that are ingested. Some babies cannot metabolise parts of proteins, amino acids or fatty acids, resulting in their accumulation in the blood, which leads to serious illnesses or even death.

Who is this test for?

The expanded heel prick test is recommended for all newborn babies. 
In Spain, a free and universal test for the early detection of the most common metabolic diseases is carried out, including phenylketonuria and congenital hypothyroidism. Despite the fact that health experts have called for these tests to be expanded, most of the autonomous regions still do not provide an expanded study.

Why perform an expanded heel prick test?

This test detects diseases that cause mental retardation, cataracts, liver disorders and serious infections, deficiencies in the immune system, serious neuromuscular and heart defects, disorders of sex development or diseases of the lungs and digestive system. Metabolic disorders are part of the genetic information unique to each individual, which means they cannot be “cured”.
This test is recommended because of the significant benefit of early diagnosis and the immediate application of preventive treatment. Thanks to this test, these diseases can be detected early, and in the majority of cases, appropriate medical treatment can be established to prevent or attenuate the disease, improving the short- and long-term health of your baby.

What does the test involve?

It consists of the identification of more than 50 metabolic anomalies in newborns, in order to detect these diseases early.

How is the test performed?

After taking a simple blood test, you will receive the results in just 15 days.

To undergo the test, call 902 121 054 or email genetica@e-icm.net and we will tell you how to proceed and direct you to your nearest laboratory.

To undergo the genetic study, you must first complete the application form and sign the informed consent form.

Our genetic counsellors are here for you

ICM boasts a team of genetic counsellors to support you and answer any questions you may have, such as the risk of having a specific mutation, the risk of having cancer, whether or not genetic testing is suitable, the likelihood that your relatives may have the disease, etc.

You can count on them. They are there to help. Please email our team at pacientes@e-icm.net.

You could also attend a consultation with one of the geneticists of our group.

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Centro de Diagnóstico autorizado por la Xunta de Galicia, inscrito en el Registro de Centros Sanitarios con el Nº C-27-001187
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