SLX4 (FANCP) 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.: GTR000520220.4
- Last updated: 2023-07-31
- Test version history
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 P
Offered by Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.SLX4 (FANCP) Sequencing (SLX4 (FANCP))
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment
Click Indication tab for more information.
Complete the appropriate test requisition and have it signed by the referring physician.
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://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/requisition/
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
- Bi-directional Sanger Sequence Analysis
- TTargeted variant analysis
- Bi-directional Sanger Sequence Analysis
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.Genetic testing may be ordered sequentially or in tandem with chromosome breakage studies and complementation studies, depending on clinical urgency. Test is also available as part of the Fanconi Anemia panel and the Bone Marrow Failure Syndromes panel by next-generation sequencing. 000 Complete the appropriate test requisition and have it signed by the referring physician.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
- 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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