Sanfilippo B (Lysosomal Enzyme - MPS III)

Also known as: lysosomal enzyme - MPS III, sanfilippo syndrome panel, mucopolysaccharidosis.

What is Sanfilippo B?

Sanfilippo syndrome (also known as MPS III) is a genetic disorder in which the body cannot break down certain large sugar molecules due to missing enzymes. The result is a number of different health problems as a result. The Sanfilippo enzyme test is a blood test that is typically part of a Sanfilippo syndrome panel in order to identify the disease.


What happens during the procedure?

A routine blood draw is required in order to begin the Sanfilippo test. The blood sample is then taken to a laboratory for testing and analysis. A sample of urine may also be collected and sent to a laboratory for further analysis.


Is any special preparation needed?

There is no special preparation needed prior to this test.


What are the risk factors?

Infection, bleeding and damage to surrounding organs and tissues are potential risks of the Sanfilippo blood test. There are no risk factors related to the urine test.


Reviewed by: Sajel L Kana, MD

This page was last updated on: 11/5/2018 2:21:16 PM

From the Newsdesk

Nicklaus Children's Hospital to offer new rapid genetic test
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Research Study: How your child's genetic makeup can impact the way he or she responds to certain medications
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.