Question 1

Purpose of Genetic Testing

Accepted Answer

Confirming clinical diagnosis of neurofibromatosis Identifying specific mutations to assess disease severity Assisting in family planning and relative screening

Question 2

When is the test recommended?

Accepted Answer

Presence of multiple café-au-lait spots Family history of NF1 or NF2 syndromes Symptoms of subcutaneous tumors or acoustic neuromas

Question 3

Post-Result Management

Accepted Answer

Establishing a surveillance schedule for tumor monitoring Coordinating care with neurology and dermatology specialists Providing specialized genetic counseling for the family

Precision Neurofibromatosis Genetic Testing - Neurofibromatosis Type 1 and 2 (NF1/NF2) Genetic Testing