GTR Test Accession:
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GTR000514579.2
Last updated in GTR:
2021-11-18
View version history
GTR000514579.2,
last updated:
2021-11-18
GTR000514579.1,
registered in GTR:
2014-06-18
Last annual review date for the lab: 2024-10-31
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-implantation genetic diagnosis; ...
Conditions (3):
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Afibrinogenemia;
AA amyloidosis;
Hereditary factor I deficiency disease
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: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Test short name:
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FGA / FGB / FGG
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Chorionic villi
- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
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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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Confirmation of research findings
Custom Deletion/Duplication Testing
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 3
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 3
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
Applied Biosystems 3130xl capillary sequencer
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-implantation genetic diagnosis;
Predictive
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Predictive risk information for patient and/or family members
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variant is excluded as a known SNP by searching databases e.g. gnomAD, dbSNP, 1000 Genome etc. In silico analysis is performed to assess probability of variant being pathogenic. Assessment of whether the variant co-segregates with the disease phenotype where possible. ACMG variant analysis guidelines used.
Variant is excluded as a known SNP by searching databases e.g. gnomAD, dbSNP, 1000 Genome etc. In silico analysis is performed to assess probability of variant being pathogenic. Assessment of whether the variant co-segregates with the disease phenotype where possible. ACMG variant analysis guidelines used.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Where possible.
Yes. Where possible.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. If significant
Yes. If significant
Recommended fields not provided:
Clinical validity,
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Results are confirmed on an independent amplification & sequence from the primary sample - where possible in the alternate direction. Reports recommend that the result be confirmed on a second independent sample.
Test Confirmation:
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Results are confirmed on an independent amplification & sequence from the primary sample - where possible in the alternate direction.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analysis of entire coding and immediate flanking regions should provide a >95% sensitivity - based on current knowledge.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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Alamut and others available on-line e.g. PMut Varsome and Franklin used for variant analysis.
Laboratory's policy on reporting novel variations Help
Interpretation of in silico analysis is included on the report. ACMG variant analysis guidelines used.
Alamut and others available on-line e.g. PMut Varsome and Franklin used for variant analysis.
Laboratory's policy on reporting novel variations Help
Interpretation of in silico analysis is included on the report. ACMG variant analysis guidelines used.
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
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.