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GenoNatal® is an expanded neonatal screening test that can detect 43 congenital metabolic diseases, food intolerances such as coeliac disease and lactose intolerance, and genetic deafness.

What is a metabolic disorder?

Metabolic diseases are rare disorders in which the body is unable to transform food properly. As a result, there is a build-up of compounds in the blood causing toxicity and a lack of essential nutrients for the body. This can lead to abnormal brain development, mental retardation, cataracts, liver deficiencies, infections, immune system deficiencies, neuromuscular and cardiac defects and impaired sexual differentiation.

Early detection of these pathologies is effective in controlling the manifestation of most serious or even fatal diseases.

What are the benefits of newborn screening?

Early detection of these pathologies is effective in controlling the manifestation of most serious or even fatal diseases.
For this reason, GenoNatal® is a valuable tool for the early detection of neonatal pathologies not detected by general screening programmes. Early detection of this type of pathology allows, in most cases, to establish a medical treatment that avoids or reduces the problem.

Because the sample can be collected at the time of heel prick blood sampling for routine screening, the test does not entail any additional discomfort or risk for the newborn.

What does it detect?

The GenoNatal® expanded neonatal screening test can detect:

● 42 congenital metabolopathies: early detection is effective in controlling the manifestation of serious or even fatal diseases.

● Food intolerances: it provides information on the baby’s risk of developing lactose intolerance and coeliac disease later in life.

● Genetic deafness: early detection minimises the impact on learning, language development and social relationships.

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GenoNatal, expanded newborn screening
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