Noonan Spectrum Disorders/Rasopathies
- 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.: GTR000506067.14
- Last updated: 2021-02-05
- Annual Review past due read more
- Test version history
- 506067.14, last updated: 2021-02-05
- 506067.13, last updated: 2020-12-04
- 506067.12, last updated: 2020-06-02
- 506067.11, last updated: 2019-05-30
- 506067.10, last updated: 2018-05-29
- 506067.9, last updated: 2017-09-25
- 506067.8, last updated: 2017-07-14
- 506067.7, last updated: 2017-05-04
- 506067.6, last updated: 2017-04-17
- 506067.5, last updated: 2017-01-11
- 506067.4, last updated: 2016-05-12
- 506067.3, last updated: 2015-04-10
- 506067.2, last updated: 2014-05-22
- 506067.1, last updated: 2013-08-08
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 Noonan syndrome 1
Offered by Asper Biogene
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
- Other
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina NextSeq 500
Test comments
HelpAdditional details about the test. E.g., 'Bi-directional sequencing of exons 1-5 with concurrent analysis of Glu234Gly'.NGS panel covers the analysis of the entire coding region of the following genes: A2ML1, ACTB, ACTG1, BRAF, CBL, CHD7, DHCR7, ELN, EPHB4, FGD1, HRAS, JAG1, KAT6B, KDM6A, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NCF1, NF1, NOTCH2, NRAS, PPP1CB, PTPN11, RAF1, RAI1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBX1. CNV analysis is included in the panel.
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
Likely pathogenic/pathogenic findings are confirmed using another technology.
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