NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
An aid in the diagnosis of sialidosis and galactosialidosis
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.
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
NEURF/88846: Fluorometric Enzyme Assay
CRYOB/88832: Fibroblast Subculture Followed by Cryopreservation and Storage
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Mucolipidosis Type I
Mucolipidosis Type I
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.
This test is not recommended for prenatal testing.
Forms: 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.
Submit only 1 of the following specimens:
Specimen Type: Cultured fibroblasts
Container/Tube: T-75 or T-25 flask
Specimen Volume: 1 full T-75 flask or 2 full T-25 flasks
Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours
Specimen Type: Skin biopsy
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [Supply T115]).
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
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.
Specimen in formalin or fixative preservative
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Sialidosis, also known as mucolipidosis I, is an autosomal recessive lysosomal storage disorder resulting from a deficiency of the enzyme neuraminidase. Clinical presentation can vary and phenotypes are typically categorized by age of onset: type I is characterized by a cherry-red spot on the retina, progressive decreased acuity, impaired color vision, or night blindness. Neurologic problems include poorly controlled myoclonus, painful neuropathy, and delayed nerve conduction. Type II sialidosis is distinguished from type I by the presence of abnormal somatic features, including coarse facies, hepatosplenomegaly, and dysostosis multiplex. The congenital form is typically associated with hydrops.
In addition to primary neuraminidase deficiency disorders, galactosialidosis is an autosomal recessive lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase secondary to a defect in the cathepsin A protein. The disorder can be classified into 3 subtypes that vary with regard to age of onset and clinical presentation. Typical clinical presentation is coarse facial features, cherry-red spots, or skeletal dysplasia. The early infantile form is associated with fetal hydrops, skeletal dysplasia, and early death. The late infantile form typically presents with short stature dysostosis multiplex, coarse facial features, hepatosplenomegaly, and/or heart valve problems. The juvenile/adult form is typically characterized by progressive neurologic degeneration, ataxia, and/or angiokeratomas. The incidence of the juvenile/adult form is greater in individuals of Japanese ancestry.
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.
>0.10 nmol/min/mg Prot
Specimens with activity >0.10 nmol/min/mg protein are considered to be normal.
Specimens with activity < or =0.10 nmol/min/mg protein are considered to be abnormal and suggestive of neuraminidase deficiency. Molecular confirmation is recommended.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test cannot discriminate carriers, hence it is not recommended for carrier screening
Neuraminidase is a particularly unstable enzyme and may be quickly destroyed by freezing, sonication, solubilization, and most purification procedures.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Thomas GH: Chapter 140: Disorders of Glycoprotein Degradation: Alpha-Mannosidosis, Beta-Mannosidosis, Fucosidosis, and Sialidosis. In The Metabolic Basis of Inherited Disease, Eighth edition. Edited by CR Scriver, AL Beuadet, WS Sly, DE Valle. 2001, pp 3507
2. Enns GM, Steiner RD, Cowan TM: Lysosomal Disorders. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth, New York, McGraw-Hill Medical Division, 2009, pp 725-726,745-746
Method Description Describes how the test is performed and provides a method-specific reference
Neuraminidase activity is measured by the hydrolysis of 4-methylumbelliferyl-alpha-D-N-acetylneuraminic acid producing 4-methylumbelliferone, which is measured fluorometrically.(Modified from O'Brein JS, Warner TG: Sialidosis: delineation of subtypes by neuraminidase assay. Clin Genet 1980;17:35-38)
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.
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.
30-45 days depending on rapidity of growth
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
3 years - check with lab for availability
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.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
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.
88240-Cryopreservation for biochemical studies
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|