Paediatric Genetics

Reasons for genetic consultation in the field of Paediatric Genetics

Genetic defects can be causative for many diseases in childhood. These include abnormalities in a child’s appearance (phenotypic anomalies), developmental delay or mental retardation, autism, speech delays, congenital hearing, and visual impairments, as well as congenital metabolic disorders or congenital neurological and muscular disorders. With the correct diagnosis, it is possible to start therapy or support for the child at an early stage. In addition, the concomitant diseases that often accompany a syndrome can be detected and treated. With the help of Genetic consultation in the field of Paediatric Genetics, parents can also assess whether other children are also at risk of developing the disease.

We offer genetic consultation, testing, and diagnostics in all cases of suspected genetic disorders

In addition to the points mentioned above, Paediatric Genetic consultation and diagnostics also include examining the blood of both parents (if available).

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What is Paediatric Genetics

Fortunately, most children are born healthy with no medical problems or birth defects. However, some children are born with differences in body structure, brain development, or body chemistry that can lead to problems with health, development, school performance, and/or social interaction. In Paediatric Genetics we aim to identify the causes and natural history of these disorders. We may suggest tests and treatments that can help in understanding and caring for your child’s condition. Paediatric Genetics also can help families understand whether some conditions are hereditary (coming from the genes) and we may offer testing to family members who may be at risk for having children with similar problems.

Children are not just small adults. As paediatric geneticists we have the training and experience to find the right diagnosis along with expertise in dealing with children and in treating children’s genetic conditions.

In Paediatric Genetics we know how to deal with children and their families in ways that put them at ease. We understand that families have many questions about genetics. Families are given clear explanations and told how to find information about their child’s condition. If special tests are needed, we explain why tests are needed and what the results may mean. If a condition might happen in other family members, this information is explained in plain language.

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