Oncogenetic Testing, Diagnosis and Follow-up in Birt-Hogg-Dubé Syndrome, Familial Atypical Multiple Mole Melanoma Syndrome and Neurofibromatosis 1 and 2

This is a clinical practice guideline for patients at risk of Birt-Hogge-Dubé Syndrome, the familial atypical multiple mole melanoma syndrome and neurofibromatosis 1&2, either based on clinical suspicion or family history. The guideline reviews indications for genetic testing, clinical utility of specific genetic tests, and follow-up depending on test results and family history. Impact of genetic counselling and test on patient behaviour and distress levels is also reviewed.