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Clinical Genetic Test
Help
offered by
Center for Human Genetics
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GTR Test Accession: Help GTR000613203.1
INHERITED DISEASE
Last updated in GTR: 2024-04-08
View version history
Last annual review date for the lab: 2021-01-14 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (1): Help
Hereditary disease
Chromosomal regions/ Mitochondria (1): Help
Human genome
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
Test short name: Help
Exome
Specimen Source: Help
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
Rodolphe Michiels, PhD, MSc, Staff
rodolphe.michiels@saintluc.uclouvain.be
Elsa Wiame, PhD, Staff
elsa.wiame@saintluc.uclouvain.be
Anne De Leener, MD, Genetic Counselor
anne.deleener@saintluc.uclouvain.be
+3227646774
Nicole Revencu, PhD, MD, Genetic Counselor
nicole.revencu@uclouvain.be
+32 27646778
Joëlle El Hajj, PhD, Staff
joelle.elhajj@saintluc.uclouvain.be
Yves Sznajer, PhD, MD, Medical Director
yves.sznajer@uclouvain.be
+32 27646863
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
All genetic tests included in the laboratory's GTR account
Uniparental Disomy (UPD) Testing
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
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
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 NextSeq
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; 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 Platform:
None/not applicable
Test Confirmation: Help
Sanger sequencing
Test Comments: Help
Turn Around Time is 6 months
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 95% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed
Assay limitations: Help
Parameters: minimal vertical coverage: 20X
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
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
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.