NEURONAL MIGRATION DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 90 genes
Delivery time
3-4 weeks
Sample
Blood
The Neuronal Migration Disorders panel is designed for the molecular study of a broad group of cortical developmental malformations resulting from alterations in neuronal proliferation, migration, and organization during embryogenesis. These anomalies can manifest as refractory epilepsy, developmental delay, intellectual disability, microcephaly, hypotonia, spasticity, and other neurological disorders. Genetic diagnosis is essential to differentiate between the various entities (such as lissencephaly, pachygyria, polymicrogyria, or neuronal heterotopias), establish a prognosis, guide clinical management, and provide appropriate genetic counseling to families. Genes analyzed: DCX, LIS1 (PAFAH1B1), ARX, TUBA1A, DYNC1H1, RELN, FLNA, WDR62, POMT1, POMGNT1, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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