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Capillary malformation-Arteriovenous malformation (RASA1, EPHB4)
Clinical Genetic Test
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offered by
Center for Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000328473.7
INHERITED DISEASECARDIOVASCULAR
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 (1): Help
Capillary malformation-arteriovenous malformation syndrome
Genes (2): Help
EPHB4 (7q22.1); RASA1 (5q14.3)
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
Center for Human Genetics
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
https://www.saintluc.be/sites/default/files/2021-05/Bon%2027G.pd
Lab contact: Help
Marie Ravoet, PhD, Staff
[email protected]
Rodolphe Michiels, PhD, MSc, Staff
[email protected]
Nicole Revencu, PhD, MD, Genetic Counselor
[email protected]
+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
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
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; 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 Procedure: Help
Sanger sequencing and MLPA
Test Confirmation: Help
Sanger sequencing and MLPA
Test Comments: Help
Turn Around Time is 3 months
Turn Around Time is 1 month for urgent cases
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
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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

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.