CentoScreen
- 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.: GTR000602568.1
- Last updated: 2022-11-07
- Test version history
- 602568.1, last updated: 2022-11-07
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 Neuronal ceroid lipofuscinosis 3
Offered by Centogene US, LLC - The Rare Disease Company
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
- CNV analysis limited to ABCC6, ALDH3A2, COL4A5, CTNS, DBT, DMD, EDA, F8, FANCA, FKTN, GAA, GALC, GBE1, GJB6, GLDC, HBA1, HBA2, HBB, HEXB, HPRT1, HPS3, HSD17B4, IDS, MCOLN1, NEB, OTC, PAH, PCCA, PCDH15, PDHA1, RAPSN, SGCB, STS and XPC genes
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis of CYP21A2Next-Generation (NGS)/Massively parallel sequencing (MPS)
- TTargeted variant analysis
- Trinucleotide repeat by PCR or Southern Blot of FMR1
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.Not provided
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