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How is Sanfilippo Syndrome diagnosed?
See how Sanfilippo Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Sanfilippo Syndrome
Sanfilippo Syndrome is diagnosed through blood, skin, and urine GAG levels.
Posted Nov 6, 2019 by TSF Inc Team Sanfilippo Foundation
You must have genetic testing to see if you have Sanfilippo Syndrome. Typically they start with a urine GAG test and then move on to further testing that can include MPS/SF specific blood tests, whole genome sequencing, skin blasts
Posted Jan 1, 2018 by Danielle 3160
Blood test, GAG measurement urine and blood, fibroblast sample and culture
Posted Feb 25, 2019 by Patty Jesse 3000
Urine Gag levels facial features blood tests.
Posted Nov 3, 2019 by Anne-marie 2500
We went to many different Dr's. The only thing they could find was that his brain was deteriorating. No one knew why. Many, many labs and tests were done. We were admited to the University of Iowa for a 10 day stay to try and figure what was going on. A visiting Dr. specializing in genetics saw him and told the others he had Sanfilippo by looking at him. They then did a genetic test looking for what sequences he carried. That us when they were able to determine for sure that he had it.
Posted Nov 6, 2019 by Cara 800
