SMN-NEGATIVE SPINAL MUSCULAR ATROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 46 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The SMN-negative Spinal Muscular Atrophy (SMA) panel analyzes 46 genes involved in inherited forms of spinal cord anterior horn and peripheral motor nerve degeneration that are not associated with SMN1 deletions or mutations. These variants can cause progressive muscle weakness and atrophy, hypotonia, motor delay, and, in some cases, bulbar or respiratory involvement. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of mutations in genes related to axonal function, vesicular transport, mitochondrial homeostasis, and protein degradation, which are responsible for various forms of congenital, juvenile, or adult-onset SMA. Among the most relevant genes included are DYNC1H1, BICD2, IGHMBP2, VRK1, REEP1, MFN2, TRPV4, ASCC1, and UBAI, among others. The complete gene list can be obtained by contacting Genotica.
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