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Alpha-N-Acetylglucosaminidase, Fibroblasts — Catalytic Concentration

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

Measures alpha-N-acetylglucosaminidase enzyme activity in cultured fibroblasts. It may help evaluate certain rare lysosomal storage disorders.

Quick summary

["Low enzyme activity can indicate alpha-N-acetylglucosaminidase deficiency, which is associated with Sanfilippo disease type B."]

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

Key facts at a glance

LOINC
24054-9
Short code
A-NAGA Fib-cCnt
Synonyms
A-NAGA Fib-cCnt
Category
liver
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
CPT
86038
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

What is this test?

This test measures the activity of the enzyme alpha-N-acetylglucosaminidase in fibroblasts, which are cells grown from a small skin biopsy. The test is used in the evaluation of mucopolysaccharidosis IIIB, also called Sanfilippo disease type B.

Why might I need this test?

It may be ordered when a person has developmental delays, progressive neurological problems, or other findings that suggest a lysosomal storage disorder. It is a specialized test rather than a routine screening test.

How is the test performed?

A clinician obtains a small skin biopsy under local anesthesia. The fibroblasts are grown in a laboratory, and their alpha-N-acetylglucosaminidase activity is measured and compared with appropriate controls.

How do I prepare for the test?

No fasting is generally required. Because a skin biopsy is needed, the clinic will provide instructions about the procedure, local anesthetic use, wound care, and any activity restrictions.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Alpha-N-acetylglucosaminidase (Fibroblasts)

Frequently asked questions

What does a low result mean?
Low activity can suggest alpha-N-acetylglucosaminidase deficiency. A specialist will interpret the result along with symptoms, other laboratory findings, and genetic test results.
Is this the same as a genetic test for Sanfilippo disease?
No. This test measures enzyme function in cultured cells, while genetic testing identifies changes in specific genes. The two tests may be used together to establish a diagnosis.
Why does the test require a skin biopsy?
The laboratory needs living fibroblasts to measure enzyme activity accurately. Culturing the cells from a skin biopsy can also take several weeks.
  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

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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