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Identifying the genetic cause of the malformation can be very challenging

Our complete and rapid genetic diagnoses provide you with processable results for hereditary malformation and delay syndromes.


The malformation and retardation syndromes are a large group of different disorders, characterized by innate abnormalities of the growth and development of the body and organs.

Most inborn malformations are caused by genetic defects. The most prevalent defects are the orofacial fissures, the heart, the neural tube and the defects of the extremities3. Malformations can occur as part of a complex syndrome, usually caused by mutations in several genes, or they can be isolated and associated with a mutation in a single gene.


Most of the important malformations are not specific to a particular syndrome, and because they show a broad spectrum of skeletal, neurological, cardiological and other clinical characteristics, obtaining a correct diagnosis, including the identification of any genetic component, to begin the Available treatment is difficult but essential to maximize the effectiveness of any intervention.


An early and early syndromic diagnosis of congenital malformations is of vital importance, since late diagnosis can cause a delay in the intervention and the treatment of accompanying anomalies, such as congenital heart defects or endocrine disorders.

Reasons for Reference


  • Individuals with the most frequent presentation of the disorder.


  • People with a positive family history


  • Individuals without a positive family history but with symptoms that resemble the indication of a specific disease.


  • Individuals with a negative family history but suspicious to perform the appropriate genetic counseling (prenatal tests are recommended in families with affected individuals).

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