Genetic Testing and NF Research

The UAB Medical Genomics Laboratory (MGL) offers clinical genetic testing for all Rasopathies, including all the neurofibromatoses (NF1, NF2, and schwannomatosis) and Legius syndrome.

Repository of NF Mutations

The UAB Medical Genomics Laboratory receives blood and tissue samples from patients referred by physicians around the world seeking to confirm a suspected diagnosis of neurofibromatosis. Based on more than 15 years of experience we have developed a database of results in >15,000 unrelated individuals, including >8,100 NF1-variant-positive individuals carrying 1 out of >3,100 different unique NF1 variants. This information is invaluable in resolving variants of unknown significance and in establishing genotype-phenotype correlations.

For more information about testing capabilities in the UAB Medical Genomics Laboratory, please visit:  Medical Genomics Lab - School of Medicine - Genetics | UAB