Unknown NBIA Disorder

Individuals who don’t know which NBIA disorder they have typically fall into one of the two categories below:

I have not had genetic testing yet
I have had genetic testing

I have not had genetic testing yet

If this statement applies to you, then you are likely in the early stages of NBIA diagnosis. The diagnostic process can take a long time to complete and often begins with the discovery of iron accumulation in the brain on an MRI. High brain iron levels alone are not enough to give a diagnosis of NBIA, but they can make a doctor suspect that NBIA is a possible diagnosis.

If you are at this stage, then the next step will likely be a series of clinical tests to check for other NBIA symptoms and genetic testing. The genetic testing is done by collecting a blood sample and checking to see if any of the genes have a change that is known to cause NBIA. Particular gene changes are associated with certain NBIA disorder, so figuring out which gene is altered will let doctors know which NBIA disorder you have.

I have had genetic testing

If this statement applies to you, then you have probably already been tested for many or all the known gene changes that can cause NBIA. For more information about the process of genetic analysis, please go to the Genetic Testing section.

If genetic testing does not reveal which NBIA disorder an individual has, then they are classified as having “idiopathic” NBIA. In simple terms, idiopathic means the cause is unknown. Although an MRI may show evidence of increased brain iron, and symptoms may point to NBIA, an underlying gene change is sometimes not found. This may occur if the testing procedure isn’t advanced enough to detect the genetic change or the NBIA was caused by a change in a gene we haven’t discovered yet.

Since there are likely other gene changes responsible for NBIA that we have not yet discovered, our team maintains a research repository for NBIA. In addition, a newer technology called whole exome sequencing can help shed light on these cases[*insert link]. This type of testing may be available as research or as a clinical test. For more information about our repository for NBIA, please contact us at info@NBIAcure.org.