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 |