GTR Test Accession:
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GTR000567667.2
Last updated in GTR: 2023-02-22
View version history
GTR000567667.2, last updated: 2023-02-22
GTR000567667.1, last updated: 2021-01-14
Last annual review date for the lab: 2024-04-08
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At a Glance
Test purpose:
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Diagnosis;
Predictive;
Screening
Conditions (36):
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Progressive familial intrahepatic cholestasis type 1;
ACTH-independent macronodular adrenal hyperplasia 2;
Alagille syndrome due to a JAG1 point mutation
more...
Genes (55):
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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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Nicole Revencu, PhD, MD, Genetic Counselor
nicole.revencu@uclouvain.be
+32 27646778
Joëlle El Hajj, PhD, Staff
joelle.elhajj@saintluc.uclouvain.be
Marie Ravoet, PhD, Staff
marie.ravoet@saintluc.uclouvain.be
nicole.revencu@uclouvain.be
+32 27646778
Joëlle El Hajj, PhD, Staff
joelle.elhajj@saintluc.uclouvain.be
Marie Ravoet, PhD, Staff
marie.ravoet@saintluc.uclouvain.be
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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All genetic tests included in the laboratory's GTR account
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: 36
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 55
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
Turn Around Time is 1 month for urgent cases
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 the 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 regions 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
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.