Genetic factors play a key role in the aetiology of many paediatric disorders. When a case arises in the family, it is essential to perform specific studies that not only allow treatment to be adapted to the disease, but also to provide appropriate reproductive counselling to prevent transmission to future children of the couple.
Who should undergo genetic testing in paediatrics?
Family History: If there is a family history of genetic diseases or disorders, it is advisable to undergo genetic studies to identify possible risks and take preventive measures.
Congenital anomalies: In the case of single or multiple congenital anomalies, genetic testing can provide crucial information for treatment and long-term management.
Development and Learning: Children with intellectual disability, global developmental delay, learning disabilities, Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD) and/or severe behavioural disorders, especially if associated with congenital anomalies and/or dysmorphic traits, may benefit from genetic diagnosis.
Other conditions: Genetic studies are essential in cases of skeletal dysplasias, craniofacial anomalies, neurological diseases, hearing loss, ophthalmological diseases, connective tissue disorders, endocrine disorders, dermatological diseases and haematological diseases.
At Nuuma Genetics, we are proud to offer a wide range of diagnostic techniques, including karyotyping, comparative genomic hybridisation arrays (CGH-array), conventional sequencing, massive sequencing and MLPA (Multiplex Ligation-dependent Probe Amplification). These advanced tools allow us to address the study of most paediatric diseases of genetic origin.
Our mission is simple but fundamental: to perform appropriate genetic studies in each case and to provide comprehensive advice to both health professionals and families. We believe in the power of genetics to improve the quality of life of children and ensure a healthier future.
Paediatric genetics offers answers and hope. Together, we can take proactive steps to understand and address the needs of children and their families. The health and well-being of our children is our priority.