Ganglioside GM2 (neuraminidase activity) in cerebrospinal fluid
This test measures the activity of an enzyme involved in breaking down a specific type of sugar molecule found in the brain and spinal fluid. It helps diagnose certain genetic disorders that affect how these molecules are processed.
This test can help detect genetic conditions that may cause developmental or neurological issues.
Key facts at a glance
- LOINC
- 104188-8
- Short code
- Mucopolysaccharidosis II NB scr pnl DBS
- Synonyms
- Mucopolysaccharidosis II NB scr pnl DBS
- Category
- chemistry
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Ref low
- 0
- Ref high
- 3
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- CPT
- 86140
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
Why Is This Test Done?
Your healthcare provider may order this test if you or your child show signs of a lysosomal storage disorder, such as a rare genetic condition affecting metabolism. It’s often used in newborn screening programs or when symptoms like developmental delays, movement problems, or vision/hearing loss appear.
What Does the Test Involve?
A small amount of cerebrospinal fluid (CSF) is collected through a procedure called a lumbar puncture (spinal tap). The fluid is then analyzed for enzyme activity related to GM2 ganglioside metabolism.
What to Expect Before the Test
You may need to fast for a few hours before the test, but this depends on your provider’s instructions. Avoid caffeine or alcohol before the procedure to reduce discomfort. Inform your provider about any medications you’re taking, as some may affect results.
What to Expect During the Test
The procedure involves lying on your side with knees bent. A needle is gently inserted into your lower back to collect CSF. You may feel pressure or a mild ache, but it usually doesn’t cause pain. You’ll be asked to hold still for a few minutes afterward to prevent bleeding.
Reference range
Normal: <3.0 mg/LN/A
No special preparation required. CRP may be affected by acute illness.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Abnormal enzyme activity in this test can indicate lysosomal storage disorders like Sandhoff disease, which can lead to severe neurological symptoms if untreated. Early detection through screening or diagnostic testing can guide treatment options, such as enzyme replacement therapy or supportive care.
Short name
GM2 Ganglioside Activity in CSF
Frequently asked questions
What does a high or low result mean?
How is this test different from other enzyme tests?
Can lifestyle changes affect this test?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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