Test Code: PABPN1
OCULOPHARYNGEAL MUSCULAR DYSTROPHY (GCG Repeat Expansion on PABPN1 Gene)
Neurogenetics
Oculopharyngeal muscular dystrophy (OPMD) is caused by a GCG trinucleotide repeat expansion in the PABPN1 gene, leading to a toxic polyalanine stretch in the proteins N-terminal domain. Affected individuals present with progressive ptosis, dysphagia, and proximal limb weakness, particularly in the shoulders and thighs. Pathogenic expansions - typically 8 to 13 GCG repeats, resulting in 12 to 17 alanines cause misfolding of the PABPN1 protein. This leads to the formation of intranuclear inclusions in skeletal muscle cells, resulting in cellular toxicity and progressive muscle degeneration.
Sample Type
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Turnaround Time
10 days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
PABPN1
Methodology
Capillary Electrophoresis
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