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Somatic vascular gene panel (20 genes)
Clinical Genetic Test
Help
offered by
Center for Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000570020.4
CARDIOVASCULARCANCERINHERITED DISEASE ... View more
Last updated in GTR: 2024-03-29
View version history
Last annual review date for the lab: 2021-01-14 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (12): Help
Rare genetic venous malformation; Arteriovenous malformation; Capillary malformation; ...
Genes (20): Help
AKT1 (14q32.33), AKT2 (19q13.2), AKT3 (1q43-44), ALK (2p23.2-23.1), BRAF (7q34), ...
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: 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
Center for Human Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
https://www.saintluc.be/sites/default/files/2021-05/Bon%2027G.pd
Lab contact: Help
Rodolphe Michiels, PhD, MSc, Staff
rodolphe.michiels@saintluc.uclouvain.be
Elsa Wiame, PhD, Staff
elsa.wiame@saintluc.uclouvain.be
Nicole Revencu, PhD, MD, Genetic Counselor
nicole.revencu@uclouvain.be
+32 27646778
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
Order URL
Informed consent required: Help
Decline to answer
Test strategy: Help
We recommend to send fresh tissu (biopsy) conserved in RNA later buffer. Before sending samples to our lab, please send us an email so that we can confirm you when the samples have arrived.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test development
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 20
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 select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
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 Comments: Help
Turn Around Time is 3 months
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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
Assay limitations: Help
Parameters: minimal vertical coverage: 500X (considered suboptimal for coverages comprised between 100 and 500X, detection limit : 4% of mutated amplicons for a coverage > 500X (result given but considered suboptimal for a VAF comprised between 2 and 4%, sensitivity of the method : 99,18%, specificity of the method : … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Citations to support 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
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.