Paediatric disorders

Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations.

The clinical features of a child with a disorder of growth or development are often insufficient to make an unequivocal clinical diagnosis. A genetic test is often required to make such a diagnosis, define the heritability of the disorder, and provide information to inform the parents’ subsequent reproductive options. Sonic Genetics provides a wide range of cytogenetic and molecular genetic assays to assist the clinical management of such children. This includes untargeted screening investigations such as karyotype and microarray. We also provide a range of targeted analyses for those situations in which the clinical features suggest a specific clinical diagnosis.

It is important that genetic tests are not regarded as the sole source of diagnostic information in children with complex medical problems. These tests are just part of the comprehensive assessment that such children require.

Click here to see the test list.