GTR Test Accession:
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GTR000593117.1
CAP
Last updated in GTR: 2021-05-20
View version history
GTR000593117.1, last updated: 2021-05-20
Last annual review date for the lab: 2023-05-30
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At a Glance
Test purpose:
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Diagnosis
Conditions (4):
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Congenital afibrinogenemia; Afibrinogenemia; Dysfibrinogenemia; ...
Genes (3):
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FGA (4q31.3), FGB (4q31.3), FGG (4q32.1)
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals with clinical features of afibrinogenemia/hypofibrinogenemia or dysfibrinogenemia/hypodysfibrinogenemia.
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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FIBNG
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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FIBNG
View other test codes
View other test codes
Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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https://www.mayocliniclabs.com/test-catalog/Specimen/64867
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Comment: FMTT
OrderCode: FMTT
Comment: FMTT
OrderCode: FMTT
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 3
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq 2500
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: an update. Semin Thromb Hemost. 2013;39(6):585-95. doi:10.1055/s-0033-1349222. Epub 2013 Jul 12. PMID: 23852822.
Target population:
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Individuals with clinical features of afibrinogenemia/hypofibrinogenemia or dysfibrinogenemia/hypodysfibrinogenemia.
View citations (1)
- de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: an update. Semin Thromb Hemost. 2013;39(6):585-95. doi:10.1055/s-0033-1349222. Epub 2013 Jul 12. PMID: 23852822.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Contact lab for details.
Yes. Contact lab for details.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete?
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Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Next-generation sequencing and/or Sanger sequencing are performed. Regions of homology, high guanine-cytosine (GC)-rich content, and repetitive sequences may not provide accurate sequence. Therefore, all reported alterations detected by next-generation sequencing in these regions are confirmed by an independent reference method. However, this does not rule out the possibility of a …
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Test Confirmation:
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Positive results are confirmed when appropriate.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity, specificity, and accuracy are ≥ 99%.
Assay limitations:
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Clinical: Some individuals may have a mutation that is not identified by the methods performed. The absence of a mutation, therefore, does not eliminate the possibility of afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, thrombophilia, bleeding tendency, familial visceral amyloidosis, or fibrinogen storage disease. This assay does not distinguish between germline and somatic alterations, …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations
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Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser
Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser
Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.