Familial Pneumothorax added to the 100,000 Genomes Project

Familial Pneumothorax has been added to the list of disorders that can be recruited to the UK 100,000 Genomes Project.  Recruited patients will undergo full genome sequencing and any FLCN mutations identified will be reported back to the referring clinician. Patients with obvious clinical  or radiological evidence of BHD should have FLCN mutation testing prior to recruitment to the Project.  It is likely, however, that many BHD patients who do not have the typical clinical or radiological features will be identified.

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