ARTHROGRYPOSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 245 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Arthrogryposis panel analyzes 245 genes involved in congenital disorders characterized by multiple joint contractures, which can affect the limbs, face, spine, or respiratory muscles. These conditions can have neuromuscular, connective tissue, skeletal, or metabolic origins and can manifest in isolation or as a syndrome, associated with muscle weakness, developmental abnormalities, facial dysmorphisms, motor delay, and respiratory or cardiac compromise. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants in genes involved in muscle formation and function, sarcomeric contraction, motor innervation, collagen synthesis, and cytoskeleton organization. Among the most relevant genes included in this panel are MYH3, LMNA, DNM2, FKRP, LAMA2, RYR1, TTN, TPM2, POMT1, POMT2, PIEZO2, COL6A1, and COL6A3, among others. You can consult the complete list of genes by contacting Genotica.
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