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