81312 Pabpn1 gene detc abnor allel
Pathology & Lab
Also known as: PABPN1 gene testing, oculopharyngeal muscular dystrophy test
Poly(A) Binding Protein Nuclear 1 (PABPN1) gene testing to detect abnormal alleles associated with oculopharyngeal muscular dystrophy.
Clinical Context
Detects PABPN1 GCN repeat expansions causing oculopharyngeal muscular dystrophy, characterized by progressive weakness of eye and pharyngeal muscles.
RVU Breakdown
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Specialties
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