Fibrillinopathy NGS panel
- 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.: GTR000592112.1
- Last updated: 2022-12-23
- Test version history
- 592112.1, last updated: 2022-12-23
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 Classic homocystinuria
Offered by HNL Genomics Connective Tissue Gene Tests
Methodology
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
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- TTargeted variant analysis
- Bi-directional Sanger Sequence Analysis
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Test developed by laboratory (no manufacturer test name)
Positive results are confirmed on a new DNA preparation using repeat sequence analysis.
- ACMG ACT, 2021American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Methionine +/- Elevated Homocysteine, Homocystinuria (Cystathionine beta-synthase deficiency), 2021
- ACMG Algorithm, 2021American College of Medical Genetics and Genomics, Algorithm, Elevated Methionine +/- Elevated Homocysteine, 2021
- ACMG ACT, 2012American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Homocystinuria (CBS Deficiency), 2012
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