Analysis ID |
151 |
Analysis location |
“GENESIS” Centre for Medical Genetics |
Diagnosed illness |
Mental retardation (ARX gene – duplication analysis) |
OMIM |
|
Clinical information |
Different mutations in the ARX gene can cause a variety of conditions that all affect brain functioning. People who have a condition caused by mutations in the ARX gene usually have intellectual disability. Unlike X-linked lissencephaly, none of ARX-related conditions is accompanied with structural brain defect. Some ARX mutations result in a non-specific X-linked intellectual disability (XLID), whereas other result in additional neurological symptoms, such as seizures or muscle rigidity. Less frequent conditions caused by ARX mutations comprise X-linked infantile spasm syndrome (a form of epilepsy called West syndrome), X-linked myoclonic epilepsy with intellectual disability and spasticity, Partington syndrome involving mild to moderate intellectual disability and abnormal muscle spasticity with involuntary muscles movements (dystonia). |
Type of analysis |
Molecular |
Type of biological material |
5 ml of peripheral blood collected in an ETDA tube; DNA sample |
Analyzed genes |
ARX |
Analysis description |
Testing of the most common mutation in the ARX gene (dup24) |
Analysis indication |
Mental retardation |
Analysis time |
3 - 4 weeks |
Refund |
Yes |
CGM laboratory name |
Laboratory for Molecular Genetics |