Beta-Galactosidase Deficiency
GTR Test Accession: Help GTR000503023.3
NYS CLEP
INHERITED DISEASEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2016-05-03
Last annual review date for the lab: 2023-06-01 LinkOut
At a Glance
Diagnosis
Mucopolysaccharidosis, MPS-IV-B
Beta-galactosidase
Biochemical Genetics - Enzyme assay: Enzyme activity
Individuals suspected of having Morquio IVB syndrome (GM-1 Gangliosidosis).
Not provided
Not provided
Ordering Information
Offered by: Help
Biochemical Genetics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 1
Enzyme Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Enzyme assay
Enzyme activity
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals suspected of having Morquio IVB syndrome (GM-1 Gangliosidosis).
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
% CV less than 10%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
N
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 4180
Status: Approved
Additional Information

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