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Table 3 Clinical outcomes used as indicators to assess the performance of diagnostics

From: Monitoring clinical quality in rare disease services – experience in England

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