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Genetic mutation analysis for IDUA enzyme activity (beta-glucuronidase)

Published: August 9, 2026Updated: August 16, 2026

This test measures the activity level of the IDUA enzyme, which plays a key role in breaking down certain substances in your body. It helps assess whether your body produces enough of this enzyme, which can be important for diagnosing or monitoring conditions linked to enzyme deficiencies.

Quick summary

["This test helps identify potential genetic conditions affecting enzyme function."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
57983-9
Short code
IDUA gene Mut Anl Bld/T
Synonyms
IDUA gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may order this test if you have symptoms or a family history suggestive of a genetic disorder linked to IDUA deficiency, such as mucopolysaccharidosis (MPS) type I. It may also be used in research or genetic counseling contexts.

What to Expect Before the Test

No special preparation is typically required. Blood is drawn from a vein in your arm, similar to other routine blood tests. If you have a history of blood draw difficulties, let your provider know.

What the Test Results Mean

Results are compared to a reference range for healthy individuals. Lower-than-expected enzyme activity may indicate a genetic condition affecting IDUA function. Your provider will discuss results in the context of your symptoms and medical history.

Common Conditions Linked to This Test

Deficiencies in IDUA are associated with conditions like MPS type I (Hurler syndrome), which can affect multiple body systems, including joints, organs, and the immune system. Early diagnosis can help manage symptoms and plan treatment.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: Genetic Testing and Enzyme Deficiencies

Short name

IDUA Enzyme Activity Test

Frequently asked questions

What does a low enzyme activity level mean?
A low enzyme activity level may suggest a genetic disorder linked to IDUA deficiency. This could mean you have a condition like MPS type I, where the body cannot properly break down certain substances. Your provider will work with you to determine if further testing or genetic counseling is needed.
Can this test be used to diagnose MPS type I?
Yes, this test can help diagnose MPS type I by measuring enzyme activity. However, genetic testing for specific mutations in the IDUA gene may also be used for confirmation, especially if symptoms are present.
Is there any risk associated with this blood test?
The blood draw is generally safe but may cause mild discomfort or bruising at the site. Rarely, there could be a slight reaction to the needle. If you have a bleeding disorder or are on blood-thinning medication, let your provider know before the test.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy