Table 3

Clinical outcomes used as indicators to assess the performance of diagnostics

Condition
Outcome measure

Amyloidosis
External Quality Assurance Services (EQAS) plus external inspection
Mitochondrial disorders
External Quality Assurance Services (EQAS) plus external inspection
Ophthalmic pathology
External Quality Assurance Services (EQAS) plus external inspection to be arranged
Primary ciliary dyskinesia
To be determined
Rare neuromuscular disorder
External Quality Assurance Services (EQAS) plus external inspection

Kenny et al. Orphanet Journal of Rare Diseases 2008 3:23   doi:10.1186/1750-1172-3-23