Brain Malformations
Brain malformations comprise a group of genetic disorders that significantly affect the development and structure of the brain. These anomalies can include malformations of the cerebellum, an abnormal accumulation of cerebrospinal fluid (hydrocephalus), or variations in head size such as macrocephaly or microcephaly.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-Generation Sequencing (NGS)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific range of tests in this field:
| INDICATION | ANALYSIS |
| Cerebellar hypoplasia | Gene panel |
| Holoprosencephaly | Gene panel |
| Hydrocephalus | Gene panel |
| Leukodystrophy and leukoencephalopathy | Gene panel |
| Macrocephaly | Gene panel |
| Primary microcephaly | Gene panel |
| Cerebellar hypoplasia | Gene panel |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | Single gene analysis (NOTCH3) |
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical picture, it is possible to request exome sequencing based on phenotypic characteristics.