GTR Test Accession:
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GTR000604115.1
Registered in GTR:
2023-02-21
View version history
GTR000604115.1,
registered in GTR:
2023-02-21
Last annual review date for the lab: 2024-04-08
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Predictive;
Screening
Conditions (1):
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Hereditary cancer-predisposing syndrome
Genes (35):
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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
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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https://www.saintluc.be/sites/default/files/2021-05/Bon%2027G.pd
Lab contact:
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Emeline Bollaert, PhD, Staff
[email protected]
Magali Philippeau, MSc, Staff
[email protected]
Anne De Leener, MD, Genetic Counselor
[email protected]
+3227646774
[email protected]
Magali Philippeau, MSc, Staff
[email protected]
Anne De Leener, MD, Genetic Counselor
[email protected]
+3227646774
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
Genetic counseling
All genetic tests included in the laboratory's GTR account
Uniparental Disomy (UPD) Testing
Genetic counseling
All genetic tests included in the laboratory's GTR account
Uniparental Disomy (UPD) Testing
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 strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 35
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 MiSeq
Clinical Information
Test purpose:
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Diagnosis;
Predictive;
Screening
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
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Sanger sequencing and MLPA
Test Comments:
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Turn Around Time is 3 months
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Sequencing detects 99% of ther reported mutations in these genes. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the régions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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.