Test Code: PABPN1

Genes: PABPN1 (1 genes)

Sample Type: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Method: Capillary Electrophoresis

Turnaround Time: 10 days

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 800

Description:
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.