GTR Test Accession:
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GTR000558874.4
Last updated in GTR: 2024-03-29
View version history
GTR000558874.4, last updated: 2024-03-29
GTR000558874.3, last updated: 2023-02-22
GTR000558874.2, last updated: 2023-02-13
GTR000558874.1, last updated: 2021-01-14
Last annual review date for the lab: 2021-01-14
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (1):
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Familial hypercholesterolemia
Genes (3):
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APOB (2p24.1), LDLR (19p13.2), PCSK9 (1p32.3)
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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Manufacturer's name:
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ADH
Specimen Source:
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- 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/2021-02/form-5447-hy
Lab contact:
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Emeline Bollaert, PhD, Staff
emeline.bollaert@saintluc.uclouvain.be
Joëlle El Hajj, PhD, Staff
joelle.elhajj@saintluc.uclouvain.be
emeline.bollaert@saintluc.uclouvain.be
Joëlle El Hajj, PhD, Staff
joelle.elhajj@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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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: 3
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;
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 or MLPA
Test Comments:
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APOB: only exon 26
Turn Around Time is 3 months
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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PCR-based sequencing detects 99% of the reported mutations in this gene. 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:
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.