The UAB Medical Genomics Laboratory serves an integral role in supporting patient care and advancing neurofibromatosis research. Viewed in the medical and scientific communities as the gold standard for NF genetic testing, the laboratory offers clinical genetic testing for all forms of neurofibromatosis, including NF1, NF2, Schwannomatosis, as well as Legius syndrome and other Rasopathies. Based on more than 15 years of experience, the Medical Genomics Laboratory has identified mutations in more than 8,000 unrelated patients and has identified more than 3,000 NF1 mutations, representing the world’s largest database repository of NF mutations. This month’s blog features insights from the Director of the UAB Medical Genomics Laboratory Yulong Fu, PhD, FACMG, and Laboratory Genetic Counselor Bryce Brown, MS, LGC. Dr. Fu and Mrs. Brown discuss how the laboratory’s unique testing capabilities, advanced technologies, and distinctive expertise support patients, physicians, and research scientists by providing information about NF variants that may be otherwise unavailable.

The UAB Neurofibromatosis Clinic provides comprehensive, integrated care to adult and pediatric patients with all forms of NF, including NF1, NF2, and schwannomatosis. Because pediatric patients frequently have health concerns that are different from those of adult patients, we provide a dedicated pediatric NF clinic that delivers specialized care for pediatric patients from a multidisciplinary team of specialists who collaborate in the treatment and management of NF and its complications. This month’s blog features insight from two physicians who provide care to pediatric NF patients.

This month’s blog post launches a series highlighting the three main categories that comprise our UAB NF Program – clinical care, research, and education. I’ll provide an overview of our program in these areas, while upcoming posts will give more in-depth information about specific aspects of the program and feature insights from our clinicians and scientists.