DYSTROGLYCANOPATHIES (WALKER-WARBURG SYNDROME): CLINICAL EXOME PANEL (Sec. & CNVs) – 22 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Dystroglycanopathies panel analyzes 22 genes involved in a group of congenital muscular dystrophies and severe multisystem syndromes, characterized by neonatal hypotonia, muscle weakness, brain malformations (such as lissencephaly or hydrocephalus), ocular abnormalities, and, in many cases, developmental delay or epilepsy. The clinical spectrum ranges from severe forms such as Walker-Warburg syndrome to milder phenotypes of limb-girdle muscular dystrophy or congenital myopathies. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants in genes involved in the glycosylation of α-dystroglycan, which is essential for muscle membrane stability. Among the most relevant genes are FKRP, FKTN, POMT1, POMT2, POMGNT1, POMGNT2, POMK, LARGE1, DAG1, and ISPD, among others. This panel facilitates diagnostic confirmation, prognostic guidance, and family counseling.
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