It is estimated that between 3 and 6% of newborns worldwide suffer from some type of inherited condition, although not all are serious. Some of these genetic disorders are detected during pregnancy, others at birth, while others may go unnoticed until children grow up or even develop into adulthood.

The most common causes for referring pediatric patients to a genetic unit based on their incidence are: inborn errors of metabolism (1 in 800 births), Down syndrome (1 in 700 births), Fragile X syndrome (1 in 5,000 births) and lysosomal storage disorders (1 in 7,000).

However, there is an increasing number of diseases whose frequency is much lower (less than 5 out of every 10,000 births) and are called rare or minority diseases and due to the scarcity of cases studied, diagnosis without genetic analysis becomes a long and complicated process.

Advantages of pediatric genetic testing

Faster and more accurate diagnosis

Identification of specific therapies

Clinical trials and emerging therapies

The speed in the diagnosis of neonatal and pediatric diseases is critical to reduce severity of symptoms and avoiding major problems in development

A targeted and specific therapy for each type of genetic defect is more effective and produces fewer side effects

For cases of diseases that still have no treatment, we will identify clinical trials and promote relationships with patient associations and research groups.


Types of pediatric genetic tests


Inborn errors of metabolism are estimated to affect 1 in 800 children and are due to metabolic defects. Early identification and specific treatment can prevent future physical and cognitive development problems.


The study of a set of genes related to a genetic disease to look for the cause of the disease and achieve a genetic diagnosis.



Study of chromosomes searching for chromosomal rearrangements, fusions, or microdeletions responsible for a specific syndrome normally associated with dysmorphological traits.


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