Bgalactosidasebldql
A blood test that checks for the presence of beta-galactosidase enzyme, used to help diagnose certain rare genetic metabolic disorders.
{"Measures the presence of beta-galactosidase enzyme in blood","Helps diagnose conditions like GM1 gangliosidosis and Morquio B disease","Involves taking a blood sample from a vein","Low or absent enzyme levels may indicate a genetic disorder","Results are typically available within a few days to a week"}
Key facts at a glance
- LOINC
- 38185-5
- Short code
- BGALBLD
- Synonyms
- B-Galactosidase Bld Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA) tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- Fluorometric enzyme assay
- CPT
- 82657
- SNOMED
- 24928008
- Specimen volume
- 5 mL whole blood; minimum 2 mL for pediatric patients
- Stability
- Ambient: 24 hours; Refrigerated (2-8°C): 72 hours; Frozen (-20°C): not recommended
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 48–168 hours
- Order
- routine
What is this test?
The beta-galactosidase blood test measures whether the beta-galactosidase enzyme is present in your blood. Beta-galactosidase is an important enzyme that helps break down certain complex sugars (called gangliosides) in your body. This test is primarily used to screen for or help diagnose rare genetic disorders where this enzyme is deficient or absent.
How is the test performed?
A healthcare professional will draw a small blood sample from a vein in your arm using a needle. The blood is collected into a special tube and sent to a laboratory for analysis. The test looks specifically for the presence and activity of the beta-galactosidase enzyme in your blood cells.
What do the results mean?
Normal results indicate that the beta-galactosidase enzyme is present and functioning properly in your blood. Abnormal results, showing low or absent enzyme levels, may suggest a genetic metabolic disorder such as GM1 gangliosidosis or Morquio B disease. Your healthcare provider will interpret your results in the context of your symptoms and other test findings.
Reference range
Normal: Beta-galactosidase activity detectable; Absent/Deficient: consistent with GM1-gangliosidosis or Morquio B diseaseN/A
No special preparation required. Patient should be informed that this test is used to screen for or confirm lysosomal storage diseases such as GM1-gangliosidosis or Morquio syndrome type B.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
Do I need to fast before this test?
Are there any risks with this test?
How long does it take to get results?
Can this test detect carrier status for genetic disorders?
What happens if my results are abnormal?
Sources
- 1
- 2
- 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