Fanconi Anemia NGS Panel
- 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.: GTR000506555.10
- Last updated: 2023-08-22
- Test version history
- 506555.10, last updated: 2023-08-22
- 506555.9, last updated: 2017-08-25
- 506555.8, last updated: 2016-05-13
- 506555.7, last updated: 2015-09-01
- 506555.6, last updated: 2014-07-02
- 506555.5, last updated: 2014-06-17
- 506555.4, last updated: 2014-06-13
- 506555.3, last updated: 2014-05-30
- 506555.2, last updated: 2014-04-07
- 506555.1, last updated: 2014-04-07
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 Familial cancer of breast
Offered by Fulgent Genetics
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)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
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)
- USPSTF, 2019Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force
- USPSTF, 2013Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation (See 2019 Update)
- NCI PDQ, Breast and Gynecologic CancersGenetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NCCN, 2023Breast Cancer, NCCN Guidelines Version 4.2022
- NCCN, 2022NCCN Clinical Practice Guidelines in Oncology, Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic version 2.2022
- NICE, 2019UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2019
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, BRCA1 and BRCA2 Pathogenic Variants (Hereditary Breast and Ovarian Cancer), 2019
- OMIM
- View AKT1 variations in ClinVar
- View ATM variations in ClinVar
- View BARD1 variations in ClinVar
- View BRCA1 variations in ClinVar
- View BRCA2 variations in ClinVar
- View CASP8 variations in ClinVar
- View CDH1 variations in ClinVar
- View ESR1 variations in ClinVar
- View HMMR variations in ClinVar
- View KRAS variations in ClinVar
- View NQO2 variations in ClinVar
- View SLC22A18 variations in ClinVar
- View PHB1 variations in ClinVar
- View PIK3CA variations in ClinVar
- View RAD51 variations in ClinVar
- View TP53 variations in ClinVar
- View XRCC3 variations in ClinVar
- View RAD54L variations in ClinVar
- View PPM1D variations in ClinVar
- View RB1CC1 variations in ClinVar
- View BRIP1 variations in ClinVar
- RefSeqGene
- Coriell Institute for Medical Research
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