How do healthcare providers diagnose Batten disease?
To diagnose Batten disease, your provider will examine your child. They will also ask about symptoms and family history. Your provider may:
- Order a DNA test: Your provider collects a sample of blood or saliva from you or your child and sends the sample to a lab for testing. The lab studies the DNA for mutations (changes) in certain genes. A DNA test is the only way to confirm a Batten disease diagnosis.
- Take a biopsy: Providers take a sample of tissue (usually from the skin) and look at it under a microscope. Your provider looks for abnormally large collections of lipofuscins. Lipofuscins are yellowish-brown deposits of fats and proteins that build up in the skin and other tissues.
- Do an eye exam: To check the health of the retina and optic nerve, your provider does a test called electroretinography (ERG). The test measures how the retina responds to light. The retina is at the back of your eye. It receives light and sends information to your brain.