Morquio syndrome B
GTR Test Accession: Help GTR000556396.1
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2017-08-10
Last annual review date for the lab: 2023-10-05 LinkOut
At a Glance
Diagnosis
Mucopolysaccharidosis, MPS-IV-B
Beta-galactosidase
Biochemical Genetics - Enzyme assay: Fluorometry
Universal
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
MPS-IVB
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
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
Yes
Post-test genetic counseling required: Help
Yes
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
Fluorometry
PerkinElmer LS-55 Fluorescence Spectrometers
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis

Target population: Help
Universal
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
Yes

Method used for proficiency testing: Help
Inter-Laboratory

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: 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.