Skeletal Dysplasia (including OI)

Four mock clinical cases; 3 with matching samples and 1 virtual case will be provided.

Approximately 2µg DNA per sample is provided. Complete information will be available in scheme instructions.

Participants will receive an individual report including educational advice and a scheme report which includes additional information from the cohort of participants including geographical spread, methodologies employed, common errors, learning points and scheme statistics allowing participants to benchmark their results.

Each laboratory will also receive a single certificate listing all EQAs participated in with performance result for each year.

Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.

Testing can be performed using any appropriate panel for genes associated with skeletal dysplasias and osteogensis imperfecta. To account for differing panel compositions, variants outside the stated scope of an individual laboratory’s panel will be excluded from their assessment. Only variants that have been validated in the test samples will be assessed.

Collaboration with European Reference Network on Rare Bone Diseases (ERN-BOND) – see website for more information.

No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).