Reasons for genetic consultation in the field of pediatrics
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, 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, pediatric genetic consultation and diagnostics also include examining the blood of both parents (if available). CeGaT offers a large variety of genetic tests, more details: Genetic diagnostics overview.
Required documents and information
We kindly ask you to send us the following documents in advance by FTAPI platform:
- completed questionnaire for pediatric genetics
- all available medical reports/documents/examination results, including documentation of the child’s birth and development to date
- standard photos of your child, for documentation and diagnostic purposes (see image on the right).
If there are any additional abnormalities (e.g., dark or light spots, skin tags, dimples, etc.), please send us additional pictures.