Mucopolysaccharide enzyme panel
GTR Test Accession: Help GTR000556400.1
Last updated in GTR: 2017-08-10
Last annual review date for the lab: 2023-10-05 LinkOut
At a Glance
Hurler syndrome; Mucopolysaccharidosis type 6; Mucopolysaccharidosis type 7; ...
Alpha-N-acetylglucosaminidase; Beta-galactosidase; Iduronate 2-sulfatase; L-Iduronidase; N-Acetylgalactosamine-4-sulfatase; ...
Heparan Sulphamidase
Biochemical Genetics - Enzyme assay: Fluorometry
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
MPS panel
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Plasma
  • Product of conception (POC)
  • Serum
  • Urine
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 7
Enzyme Associated Condition
Proteins Help
Total proteins: 1
Protein Associated Condition
Total methods: 1
Method Category Help
Test method Help
Enzyme assay
PerkinElmer LS-55 Fluorescence Spectrometers
Clinical Information
Test purpose: Help
Clinical utility: Help
Establish or confirm diagnosis

Target population: Help
View citations (1)
  • Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, Nanavaty N, Datar C, Kamate M, Oza N, Ankleshwaria C, Mehta S, Jackson M. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014;12:51-63. doi:10.1007/8904_2013_244. Epub 2013 Jul 13. PMID: 23852624.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The enzyme activity is greater than 98% sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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