Is genetic testing for neurofibromatosis necessary?

Generally speaking, genetic testing for neurofibromatosis is necessary, especially for individuals suspected of having the condition or those with a family history, as it can aid in confirming diagnosis, guiding treatment planning, and assessing genetic risks. Detailed analysis is as follows:

Neurofibromatosis is a hereditary disease caused by specific gene mutations and exhibits individual variability in clinical presentation. Relying solely on symptoms and imaging examinations may make accurate diagnosis challenging. Through genetic testing, causative gene mutations can be directly identified, providing crucial evidence for diagnosis and preventing potential misdiagnosis or missed diagnosis due to atypical symptoms. Once the disease-causing gene is identified, physicians can better understand the disease type and risk of progression, enabling formulation of an individualized treatment plan, such as determining whether early intervention is needed, selecting an appropriate monitoring frequency, and evaluating the necessity of treatment options like surgery.

In daily life, individuals with relevant family histories or those experiencing suspected symptoms can proactively seek information regarding genetic testing, undergo testing under professional guidance according to their personal circumstances, and emphasize regular health monitoring to ensure effective disease prevention and management.