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.: GTR000506055.15
- Last updated: 2023-06-19
- 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
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
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Other
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Other
- TTargeted variant analysis
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3730 capillary sequencing instrument
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.Test developed by laboratory (no manufacturer test name)
Test procedure
HelpSummary of the test methodology and/ or description of the specific steps for each method used in this assay.We use a combination of Next Generation Sequencing (NGS) and Sanger sequencing technologies to cover the full coding regions of the listed genes plus ~10 bases of non-coding DNA flanking each exon. As required, genomic DNA is extracted from the patient specimen. For NGS, patient DNA corresponding to these regions is captured using an optimized set of DNA hybridization probes. Captured DNA is sequenced using Illumina’s Reversible Dye Terminator (RDT) platform (Illumina, San Diego, CA, USA). Regions with insufficient coverage by NGS are covered by Sanger sequencing. Copy number variants (CNVs) such as deletions and duplications are detected from next generation sequencing data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution, and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as PCR, aCGH or MLPA before they are reported. This test is also offered via our exome backbone with CNV detection. The exome-based test may be higher priced than this test depending on the amount of Sanger backfill requested. However, the exome-based test permits reflex to the entire exome or to any other set of clinically relevant genes.
Citations
Not provided
- 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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