Test ID: ANAS
Alpha-N-Acetylglucosaminidase, Serum
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Diagnosis of Sanfilippo syndrome type B (mucopolysaccharidoses type IIIB)
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Diagnostic enzyme assay for Sanfilippo syndrome, type B.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Colorimetric
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
MPS 3B
MPS IIIB
Mucopolysaccharidosis IIIB
N-Acetyl-Alpha-D-Glucosaminidase Deficiency
NAGLU Deficiency
Sanfilippo Syndrome B
Sanfilippo Syndrome Type B
Sanfilippo Type B
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Collection Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 1 mL
Forms:
1. 1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
2. 2. If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | Mild OK; Gross OK |
| Lipemia | Mild OK; Gross OK |
| Icterus | Mild OK; Gross OK |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Serum | Frozen | 365 days |
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The mucopolysaccharidoses (MPS) are a group of disorders caused by the deficiency of any of the enzymes involved in the stepwise degradation of glycosaminoglycans (GAGs). Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs resulting in the clinical features observed in MPS disorders.
Sanfilippo syndrome is an autosomal recessive MPS with 4 recognized types (A-D) caused by different enzyme deficiencies; the clinical presentation of all types, however, is indistinguishable. Sanfilippo syndrome is characterized by severe central nervous system (CNS) degeneration, but other symptoms seen in MPS, such as coarse facial features, tend to be milder. Onset of clinical features usually occurs between 2 and 6 years in a child who previously appeared normal. The presenting symptoms are most commonly developmental delay and severe behavioral problems. Severe neurologic degeneration occurs in most patients by 6 to 10 years of age, accompanied by a rapid deterioration of social and adaptive skills. Death generally occurs by age 20, although individuals with an attenuated phenotype may have a longer life expectancy.
Sanfilippo syndrome type B is due to the absence of the enzyme N-acetyl-alpha-D-glucosaminidase (alpha-hexosaminidase), caused by mutations in the NAGLU gene. Diagnostic sequencing of the NAGLU gene and deletion/duplication studies are available for patients with an enzyme deficiency.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
0.09-0.58 U/L
Interpretation Provides information to assist in interpretation of the test results
Deficiency of alpha-N-acetylglucosaminidase is diagnostic for Sanfilippo syndrome type B.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This is the preferred test for diagnosing Sanfilippo syndrome type B; however, if fibroblasts are readily available, ANAT/8783, Alpha-N-Acetylglucosaminidase, Fibroblasts can also be used to diagnose this disorder.
This assay detects Sanfilippo syndrome type B only. The 3 other types of Sanfilippo syndrome (A, C, and D) must be ruled out independently.
This assay will not identify carrier status for Sanfilippo syndrome type B.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Heron B, Mikaeloff Y, Froissart R, et al: Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kindgom and Greece. Am J Med Genet A 2011;155A(1):58-68
2. Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The Metabolic and Molecular Bases of Inherited Disease. Eighth edition. Edited by CR Scriver, AL Beaudet, D Valle, et al. New York, McGraw-Hill Book Company, 2001, pp 3421-3452
3. Valstar MJ, Bruggenwirth HT, Olmer R, et al: Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010;33:759-767
Method Description Describes how the test is performed and provides a method-specific reference
When p-nitrophenol alpha-D-glucosaminide is used as substrate, it is hydrolyzed by serum N-acetyl-alpha-D-glucosaminidase to yield p-nitrophenol and free N-acetyl-glucosamine. p-Nitrophenol is subsequently measured spectrophotometrically at a basic pH. (von Figura K, Logering M, Mersmann G, Kress H: Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families. J Pediatr 1973;83:607-611)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
84311
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 50564 | Specimen | 31208-2 |
| 50565 | Specimen ID | N/A |
| 50566 | Source | N/A |
| 50567 | Order Date | N/A |
| 50568 | Reason For Referral | 42349-1 |
| 50569 | Method | In Process |
| 50577 | Alpha-N-Acetylglucosaminidase, S | 1837-4 |
| 50570 | Interpretation | 59462-2 |
| 50571 | Amendment | In Process |
| 50572 | Reviewed By | N/A |
| 50573 | Release Date | N/A |
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