RETT/RETT-LIKE/ANGELMAN SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 63 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Rett, Rett-like, and Angelman Syndrome Panel analyzes genes associated with neurodevelopmental disorders characterized by psychomotor regression, language loss, epilepsy, stereotyped movements, and behavioral disturbances. The study encompasses genes related to epigenetic regulation, synaptogenesis, and neuronal function, enabling differential diagnosis between these entities with overlapping phenotypes. Identifying pathogenic variants is key to guiding prognosis, clinical management, and carrier detection. Genes analyzed include MECP2, CDKL5, FOXG1, UBE3A, SCN1A, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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