If a doctor believes that the patient is suffering from Hunter Syndrome based on the presentation of physical abnormalities they can perform the following test:
Urinary GAG Excretion Test:
Positive Test Results: a positive result would indicate that the patient has a high concentration of GAG in their
urinary. This is an indicator that the patient is not breaking this substance down and would lead the doctor to
complete the next series of tests.
Negative Test Results: a negative test result would indicate that the patient does not have a high
concentration of of GAG. However a negative result here does not mean that the patient does not have MPS
2. The test may have produced a false positive in which case the doctor could retest or complete some of the
other tests for MPS 2.
Enzyme Activity Test:
Genetic Testing:
Urinary GAG Excretion Test:
- In this diagnostic test the patient gives a urinary sample to the doctor, which is run through a series of screenings to test for the presence of GAG. GAG is the saccharide that is not affectively broken down in patients who have Hunter Syndrome.
Positive Test Results: a positive result would indicate that the patient has a high concentration of GAG in their
urinary. This is an indicator that the patient is not breaking this substance down and would lead the doctor to
complete the next series of tests.
Negative Test Results: a negative test result would indicate that the patient does not have a high
concentration of of GAG. However a negative result here does not mean that the patient does not have MPS
2. The test may have produced a false positive in which case the doctor could retest or complete some of the
other tests for MPS 2.
Enzyme Activity Test:
- This type of test can be completed in many different places in the body. The best substances to test for enzyme activity are: leukocytes, plasma and serum. Your doctor will be looking for a low or completely absent amount of iduronate-2-sulfatase to confirm a diagnosis of MPS 2.
Genetic Testing:
- A genetic test can be completed on mom, dad and the patient to identify the presence of the mutation in the IDS gene that causes MPS 2. This avenue may be difficult at times due to the different types of mutations that can cause MPS 2. This makes it especially difficult to identify the mother as a carrier.