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Mucolipidosis II/III
Clinical Genetic Test
Help
offered by
Lysosomal Diseases Testing Laboratory
GTR Test Accession: Help GTR000021108.2
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2016-01-18
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Pseudo-Hurler polydystrophy; Mucolipidosis type II
Enzymes (2): Help
Beta-hexosaminidase subunit alpha; beta-Glucuronidase
Methods (1): Help
Biochemical Genetics - Enzyme assay: Enzyme activity
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Lysosomal Diseases Testing Laboratory
View lab's website
Test short name: Help
I-cell disease
Specimen Source: Help
  • Cord blood
  • Fibroblasts
  • Peripheral (whole) blood
  • Plasma
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
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.
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 2
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
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Testing for abnormal activity of lysosomal hydrolases (which is a secondary change in GNPTAB-Related Mucolipidoses)
All individuals with coarse facial features
Test for elevated levels of lysosomal hydrolases in plasma, decreased levels in cultured cells.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Plasma activities > 10X normal
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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