PABPN1 Repeat Analysis
Use
This test detects expansions in the poly(A) binding protein nuclear 1 (PABPN1) gene that cause oculopharyngeal muscular dystrophy (OPMD), by analyzing trinucleotide repeat expansions in exon 1 and identifying the pathogenic p.G12A single-nucleotide variant when present; it provides high sensitivity (~99% of OPMD cases detectable by this method) and technical sensitivity >95% through confirmatory Sanger sequencing.
Special Instructions
Not provided.
Limitations
This test detects expansions and the p.G12A variant; it may not detect other pathogenic variants outside exon 1 or non‑alanine repeat mutations. Repeat sizing relies on visual inspection which may have limitations in extremely large expansions. The technical sensitivity is estimated >95%, so rare false negatives may occur due to sequencing limitations.
Methodology
Sanger
Biomarkers
PABPN1
Gene
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2–10 mL
Minimum Volume
Not provided
Container
EDTA (lavender top) tube
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