Together with a specialist in human genetics, we offer you an interdisciplinary neurogenetic consultation. The diagnostic consists of two parts: Firstly, a neuropaediatric, psychological and therapeutic examination, and secondly, genetic diagnostics in the laboratory.
Indications for presentation during consultation hours
- Congenital malformations
- Dysmorphic signs (deviations from "normal"), especially in combination with a developmental disorder
- Suspected presence of a chromosomal defect
- Healthy parents with a sick child
Process of the consultation hour
Together we will discuss your child's medical history, the available examination results, the stage of development and any signs of dysmorphism. The child is examined and a family tree is drawn up.
If genetic testing is required, we explain in detail which and in what order. If necessary, a blood sample will be taken for further diagnostic purposes.
Communication of findings
If you as parents have given your consent, the findings will be sent to you in writing and to your paediatrician and the SPC. Afterwards, there is of course the possibility of a further consultation.
Methods of investigation
- Chromosome analysis
- Fluorescence in situ hybridisation (FISH analysis)
- Subtelomere screening
- Array-CGH diagnostic
- Molecular genetic analysis
Neurogenetic consultations take place in the SPC approximately every four to six weeks.