IDUA Gene Sequencing
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000613197.1
- Last updated: 2024-03-26
- Test version history
- 613197.1, last updated: 2024-03-26
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Mucopolysaccharidosis type 1
Offered by Institute for Genomic Medicine (IGM) Clinical Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.IDUA Gene Sequencing (IDUA Sequencing)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Risk Assessment
Click Indication tab for more information.
Samples can be accepted 6 days a week (Monday - Saturday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.nationwidechildrens.org/specialties/laboratory-services
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- TTargeted variant analysis
- Bi-directional Sanger Sequence Analysis
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.This test is a full gene sequence analysis of the IDUA gene that sequences the entire protein coding regions (exons) as well as splice sites (exon-intron junctions).
Citations
Not provided
- ACMG ACT, 2023American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, alpha-L-iduronidase deficiency with or without glycosaminoglycan (GAG) accumulation, Mucopolysaccharidosis Type 1 (MPS I), 2023
- ACMG Algorithm, 2023ACMG Algorithm, MPS I: Decreased Alpha-L-Iduronidase; Elevated Dermatan and Heparan Sulfates, 2023
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