Neurofibromatosis type 2 is most often diagnosed based on the presence of physical symptoms that are part of the specific diagnostic criteria for the disorder. Genetic testing for the NF2 mutation is available and may be appropriate for some people, including those who want to confirm a clinical diagnosis or for family members who are at risk of developing NF2 and are interested in early detection.

Advanced Genetic Testing for NF2 at the UAB Medical Genomics Laboratory

Based on a small blood sample from the affected individual, genetic testing can diagnose NF2 with 90% sensitivity by sequencing a person’s NF2 gene to identify mutations. The UAB Medical Genomics Laboratory offers the most scientifically reliable and advanced genetic testing techniques currently available for the diagnosis and characterization of NF2 mutations. This state-of-the-art laboratory performs the highest volume of neurofibromatosis genetic testing in the world.

It’s important to know that while genetic testing can confirm the presence of an NF2 mutation in most cases, it can’t predict the severity of the disorder. Genetic testing for NF2 might be appropriate for the following individuals:

• People who want to confirm a clinical diagnosis of NF2
• Those at risk of developing NF2 who are interested in early detection
• People interested in preparing for prenatal testing or pre-implantation diagnosis

The Role of Genetic Counseling

A genetic counselor – who has specialized training in medical genetics and counseling – can help families make informed decisions about whether genetic testing is right for them. The UAB Neurofibromatosis Program provides access to a team of experienced genetic counselors who can help families learn more about genetic testing for NF2 and provide support to assist in adapting to a new diagnosis.

Also, a genetic counselor can provide information and guidance in the following key areas:

• Help you understand how NF2 can be passed down in families and determine your risk of having children with NF2
• Explain the testing options available to you and discuss the benefits and limits of genetic testing
• Provide information about specific tests that are available to you if you are pregnant or plan on becoming pregnant (i.e., prenatal testing and pre-implantation genetic diagnosis)
• Interpret and explain the results of genetic testing for NF2