MPS IV Panel, BS
GTR Test Accession: Help GTR000613120.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2023-12-04
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Mucopolysaccharidosis, MPS-IV-A; Mucopolysaccharidosis, MPS-IV-B
Beta-Galactosidase; N-acetylgalactosamine-6-sulfatase
Biochemical Genetics - Analyte: Tandem mass spectrometry (MS/MS)
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB. …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
MPS4B
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/Overview/618294#Specimen
Order URL
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
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 14, 2023.

Target population: Help
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB. This test is not useful for carrier detection.
View citations (2)
  • Hopwood JJ, Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 14, 2023. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225546905
  • Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 14, 2023. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225544161
Recommended fields not provided:
Technical Information
Test Procedure: Help
One dried blood spot sample (DBS) is incubated with a mix of substrate and internal standard (IS) for iduronate 2-sulfatase, heparan N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylgalactosamine-sulfate, beta-galactosidase, arylsulfatase B, beta-glucuronidase, and tripeptidyl peptidase 1. A second DBS sample is incubated with a mix of substrate and IS for acetyl-CoA:alpha-glucosaminide N-acetyltransferase; and third … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed by analysis of normal and deficient specimens (N=127); all samples were clinically concordant. Intra assay precision was performed at 3 levels: CV results ranged from 5% to 9% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 9% to 12% (N=30 each). … View more
Assay limitations: Help
Beta-galactosidase is also reduced in patients with galactosialidosis. Those patients will also demonstrate deficient activity of neuraminidase which is not evaluated on this panel. If there was clinical suspicion of galactosialidosis, please order follow up testing to include test OLIGU / Oligosaccharide Screen, Random, Urine. Individuals with pseudodeficiency alleles can … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
Intra-laboratory alternative assessment of performance through patient blind or blind donor testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.