Clinical Genetic Test
offered by
GTR Test Accession:
Help
GTR000592544.1
Registered in GTR:
2021-04-07
View version history
GTR000592544.1,
registered in GTR:
2021-04-07
Last annual review date for the lab: 2024-07-01
LinkOut
At a Glance
Test purpose:
Help
Risk Assessment
Conditions (2):
Help
Immunodeficiency 49;
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Genes (1):
Help
BCL11B (14q32.2)
Methods (1):
Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
View lab's website
View lab's test page
Test short name:
Help
BCL11B
Lab contact:
Help
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
Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Order URL
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
Help
Custom Prenatal 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 Order Code,
Specimen source,
Test strategy,
Test development
Conditions
Help
Total conditions: 2
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Risk Assessment
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
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Accuracy: >94%, sensitivity: >94%, precision: 100%
Assay limitations:
Help
This assay may not detect deletions and duplications if present in <20% of the tested sample. In some cases, breakpoints may be difficult to determine. This assay is unable to detect genomic rearrangements, point mutations in the gene(s) of interest, or copy number changes in genes with corresponding pseudogenes.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
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
Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Clinical resources:
Molecular resources:
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.