MILROY SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Milroy Syndrome panel analyzes three genes involved in this congenital form of hereditary lymphedema, characterized by chronic swelling, primarily in the lower extremities, present from birth or early childhood. This disorder results from abnormalities in the formation and function of lymphatic vessels, affecting the VEGF-C/FLT4 pathway. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows for the study of genes responsible for lymphatic endothelial signaling and development. Some of the genes included in this panel are FLT4, GJC2, and VEGFC. The complete list of genes can be obtained by contacting Genotica.
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