NGS Panel for Fanconi anemia
- 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.: GTR000560963.4
- Last updated: 2022-06-29
- 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 A
Offered by BloodGenetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.NGS Panel for Fanconi anemia (10090-Fanconi anemia)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Please write an email to info@bloodgenetics.com
http://bloodgenetics.com/study-request/?lang=en
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://bloodgenetics.com/study-request/?lang=en
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
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina MiSeq/MiniSeq
Establish or confirm diagnosis
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: 10090
- Confirmation of research findings
- Custom Sequence Analysis
- Result interpretation
- 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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