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Table 1 Diagnostic tests for transthyretin (TTR) amyloidosis

From: Guideline of transthyretin-related hereditary amyloidosis for clinicians

Method Materials Sensitivity Specificity Throughput Cost Aim of Analysis
Pathologic
Congo red Tissues Medium-high High High Low Detecting amyloid deposits
BSB, FSB dyes Tissues High Medium High Low-medium Detecting amyloid deposits
Electron microscopy Tissues Medium High Low Low Confirming amyloid fibrils
Immunohistochemistry with anti-TTR antibodies Tissues High Medium-high Low-medium Low-medium Detecting TTR deposits
Genetic
PCR-RFLP DNA High High Medium Low Detecting predicted mutations in the TTR gene
Real-time PCR (melting curve analysis) DNA High High High Medium Detecting predicted mutations in the TTR gene
PCR-SSCP DNA Medium Medium Medium-high Low Screening for unknown mutations in the TTR gene
Sequencing DNA High High Low High Detecting unknown mutations in the TTR gene
Mass Spectrometry (MS)
MALDI-TOF MS, ESI-MS Serum protein Medium-high Medium Medium Low Detecting variant TTR
FT-ICR MS Serum protein Medium-high Medium-high Medium Low Detecting variant TTR
SELDI-TOF MS Serum protein Medium-high Medium High Low-medium Detecting variant TTR
LC-MS/MS Tissues Medium Medium Low Medium Identifying precursor proteins of amyloid fibrils, including variant TTR
  1. Abbreviations: BSB, 1-Bromo-2,5-bis(3-carboxy-4-hydroxystyryl)benzene; FSB, 1-Fluoro-2,5-bis(3-carboxy-4-hydroxystyryl)benzene; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; SSCP, single-strand conformation polymorphism; MS, mass spectrometry; MALDI-TOF, matrix-assisted laser desorption/ionization time-of-flight; ESI, electrospray ionization; FT-ICR, Fourier transform ion cyclotron resonance; SELDI-TOF, surface enhanced laser desorption/ionization-TOF; LC-MS/MS, liquid chromatography–tandem mass spectrometry.