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Mucopolysaccharidosis Type I
Clinical Genetic Test
Help
offered by
Dep. of Paediatrics and Inherited Metabolic Disorders
View lab's test page
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GTR Test Accession: Help GTR000309901.5
INHERITED DISEASEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2017-10-19
View version history
Last annual review date for the lab: 2023-10-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Mucopolysaccharidosis type 1
Genes (1): Help
IDUA (4p16.3)
Methods (3): Help
Biochemical Genetics - Analyte: Spectrophotometry, electrophoresis; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Dep. of Paediatrics and Inherited Metabolic Disorders
View lab's website
View lab's test page
Test short name: Help
MPS I
Lab contact: Help
Lenka Dvorakova, PhD, Lab Associate Director
lenka.dvorakova@vfn.cz
+420 224967701
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
Order URL
Test additional service: Help
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Specimen source, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument
Analyte
Spectrophotometry, electrophoresis
Enzyme assay
Enzyme activity
Other
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500xL capillary sequencing instrument
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sanger sequencing will identify the missense and nonsense mutations, small deletions, small duplications and small insertions located in the analysed fragments. These variants are detected with 99,9% accuracy.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
DGKL-RfB: DNA sequencing - technical performance and medical interpretation, ERNDIM - analyte, enzyme
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.