[Laboratory diagnosis of rare diseases].

Psittacosis (parrot fever) is underdiagnosed in Sweden, possibly due to lack of awareness, and the fact that only five out of 24 clinical microbiology laboratories routinely perform the PCR test for Chlamydia psittaci. The test has shown 100% sensitivity and 100% sensitivity for the pathogen in samples from the lower part of the respiratory tract which caters for a high predictive value in patients with symptoms and signs of community-acquired atypical pneumonias, provided optimal patient selection. Knowledge and awareness of treatable rare diseases amongst healthcare personnel combined with conveniently available cost-effective diagnostic techniques is essential for improvements in the handling of rare diseases.