GTR Test Accession:
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GTR000600358.1
CAP
Registered in GTR:
2022-10-17
View version history
GTR000600358.1,
registered in GTR:
2022-10-17
Last annual review date for the lab: 2022-11-01
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (2):
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Familial cancer of breast;
Fanconi anemia complementation group J
Genes (1):
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BRIP1 (17q23.2)
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Not provided
Clinical validity:
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This panel should be performed in all individuals suspected of …
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniotic fluid
- Bone marrow
- Buccal swab
- Cell culture
- Chorionic villi
- Dried blood spot (DBS) card
- Fetal blood
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- Saliva
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
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
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test additional service:
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Custom mutation-specific/Carrier testing
Informed consent required:
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Yes
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,
Test development
Conditions
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Total conditions: 2
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| 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 *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical validity:
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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk …
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The interpretation of a variation as a VUS is done according to the practice guidelines provided by the American College of Medical Genetics (ACMG; ACMG recommendations for standards for interpretation and reporting of sequence variations).
The interpretation of a variation as a VUS is done according to the practice guidelines provided by the American College of Medical Genetics (ACMG; ACMG recommendations for standards for interpretation and reporting of sequence variations).
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No. We are performing a majority of carrier testing with reduced pricing and in selected cases at no cost.
No. We are performing a majority of carrier testing with reduced pricing and in selected cases at no cost.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. In case of identification of mutation that can be present in non-affected family members, or after identification of highly specific genetic change, or in additional special situations we could contact the ordering physician again.
Yes. In case of identification of mutation that can be present in non-affected family members, or after identification of highly specific genetic change, or in additional special situations we could contact the ordering physician again.
Research:
Is research allowed on the sample after clinical testing is complete?
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After clinical testing is completed, with the patient’s signed consent, Centogene utilizes and archives the sample according to all regulatory guidelines and standards.
After clinical testing is completed, with the patient’s signed consent, Centogene utilizes and archives the sample according to all regulatory guidelines and standards.
Recommended fields not provided:
Clinical utility,
Target population,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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CENTOGENE has established stringent quality criteria and validation processes for variants detected by NGS. Variants with low sequenci ng quality and/or unclear zyg osity are confirmed by orthogonal methods. Consequently, a specificity of > 99.9% for all reported variants is warranted. Mitochondrial variants are reported for heteroplasmy levels of 15% …
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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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ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST) .
Laboratory's policy on reporting novel variations Help
Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location … View more
ALAMUT, integrating other programs (Polyphen-2, Mutation Taster, Alignment, ExPASy, BLAST) .
Laboratory's policy on reporting novel variations Help
Centogene has a common practice to report all variants found in genetic testing, including novel and previously reported variants. A number of criteria are used to support a variant as being potentially disease-causing, including segregation with disease status in other affected family members, absence from a control population, and location … View more
Recommended fields not provided:
Test Confirmation,
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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Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
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.