Mental retardation (ARX gene – duplication analysis)
Analysis ID 151
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Mental retardation (ARX gene – duplication analysis)
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