GTR Test Accession:
Help
GTR000333054.6
Last updated in GTR: 2024-03-29
View version history
GTR000333054.6, last updated: 2024-03-29
GTR000333054.5, last updated: 2023-03-09
GTR000333054.4, last updated: 2021-01-14
GTR000333054.3, last updated: 2018-01-18
GTR000333054.2, last updated: 2017-01-17
GTR000333054.1, last updated: 2014-01-14
Last annual review date for the lab: 2024-04-08
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Predictive;
Screening
Conditions (25):
Help
Pheochromocytoma;
ACTH-independent macronodular adrenal hyperplasia 2;
AIP-Related Familial Isolated Pituitary Adenomas
more...
Genes (49):
Help
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
Help
https://www.saintluc.be/sites/default/files/2021-05/Bon%2027G.pd
Lab contact:
Help
Anne De Leener, MD, Genetic Counselor
anne.deleener@saintluc.uclouvain.be
+3227646774
Emeline Bollaert, PhD, Staff
emeline.bollaert@saintluc.uclouvain.be
Magali Philippeau, MSc, Staff
magali.philippeau@saintluc.uclouvain.be
anne.deleener@saintluc.uclouvain.be
+3227646774
Emeline Bollaert, PhD, Staff
emeline.bollaert@saintluc.uclouvain.be
Magali Philippeau, MSc, Staff
magali.philippeau@saintluc.uclouvain.be
Contact Policy:
Help
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:
Help
Informed consent required:
Help
Decline to answer
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Test strategy,
Test development
Conditions
Help
Total conditions: 25
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 49
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose:
Help
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:
Help
Sanger sequencing and MLPA
Test Comments:
Help
Turn Around Time is 3 months
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
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?
Help
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:
Help
Not provided
Additional Information
Suggested reading:
Clinical resources:
Practice guidelines:
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.