WALKER-WARBURG SYNDROME AND DYSTROGLYCANOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 22 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Walker-Warburg Syndrome and Dystroglycanopathies panel focuses on the study of a group of severe congenital muscular dystrophies associated with brain malformations, severe hypotonia, developmental delay, and ocular abnormalities. Mutations in genes involved in the glycosylation of α-dystroglycan are responsible for the loss of muscle integrity and neuronal migration abnormalities. Molecular diagnosis allows differentiation between syndromic and non-syndromic forms, establishes the prognosis, and guides multidisciplinary follow-up. Genes analyzed include POMT1, POMT2, FKRP, FKTN, ISPD, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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