Glutaric Acidemia Type I: GCDH 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.: GTR000502134.11
- Last updated: 2022-12-06
- Test version history
- 502134.11, last updated: 2022-12-06
- 502134.10, last updated: 2022-11-22
- 502134.9, last updated: 2022-10-20
- 502134.8, last updated: 2022-10-13
- 502134.7, last updated: 2022-08-25
- 502134.6, last updated: 2022-05-02
- 502134.5, last updated: 2022-04-28
- 502134.4, last updated: 2019-01-15
- 502134.3, last updated: 2018-05-18
- 502134.2, last updated: 2015-04-15
- 502134.1, last updated: 2013-05-23
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 Glutaric aciduria, type 1
Offered by Greenwood Genetic Center Diagnostic Laboratories
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
- DDeletion/duplication analysis
- Microarray
- CSequence analysis of the entire coding region
- 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 but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-DC Acylcarnitine, Glutaric Acidemia Type I (GA I), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia Type I (GA I): Elevated C5-DC, 2022
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