Indication

Clinical suspicion of the disease.


OMIM#

247200


Specimen7,5 ml blood in EDTA-glass.


Analysis
Microdeletions analysis on chromosome 17p13.3 with MLPA technique.

A normal result of the analysis does not exclude the diagnosis because the disease can also be due to mutations in LIS1 that are not detected with this strategy.

Contact the department for further information.


DeliveryBy mail. Monday to Friday.


Turn around time6 weeks.