Fanconi Anemia via the RAD51C/FANCO Gene
- 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.: GTR000506055.2
- Last updated: 2015-02-27
- Test version history
- 506055.15, last updated: 2023-06-19
- 506055.14, last updated: 2020-09-09
- 506055.13, last updated: 2019-01-09
- 506055.12, last updated: 2018-10-02
- 506055.11, last updated: 2018-07-03
- 506055.10, last updated: 2018-02-05
- 506055.9, last updated: 2018-01-17
- 506055.8, last updated: 2017-12-04
- 506055.7, last updated: 2016-09-26
- 506055.6, last updated: 2016-03-30
- 506055.5, last updated: 2016-03-08
- 506055.4, last updated: 2016-01-28
- 506055.3, last updated: 2015-08-15
- 506055.2, last updated: 2015-02-27
- 506055.1, last updated: 2014-06-06
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 Fanconi anemia, complementation group O
Offered by PreventionGenetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Fanconi Anemia via the RAD51C/FANCO Gene
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening
Click Indication tab for more information.
Please visit Lab web site for detail http://www.preventiongenetics.com
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.: http://preventiongenetics.com/clinical-dna-testing/requisition-forms/
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
- DDeletion/duplication analysis
- Comparative Genomic Hybridization
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 882
- Custom Deletion/Duplication Testing, Order code: 600
- FARF, 2020Fanconi Anemia Clinical Care Guidelines, Fifth Edition.
- FARF, 2008Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008 (See 2020 Update)
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