Clinical Genetic Test
offered by
GTR Test Accession:
Help
GTR000570007.1
Last updated in GTR: 2020-01-13
View version history
GTR000570007.1, last updated: 2020-01-13
Last annual review date for the lab: 2020-01-23
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (184):
Help
Chromosome 1p36 deletion syndrome;
11p partial monosomy syndrome;
11q partial monosomy syndrome
more...
Genes (126):
Help
Methods (1):
Help
Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
Rearrangement syndromes. Detection of duplications and deletions with aCGH technology …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Establish or confirm diagnosis
Ordering Information
Offered by:
Help
Who can order: Help
- Genetic Counselor
- Health Care Provider
Test Order Code:
Help
150659
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
Test service:
Help
Custom Deletion/Duplication Testing
Informed consent required:
Help
Yes
Pre-test genetic counseling required:
Help
Yes
Post-test genetic counseling required:
Help
Yes
Recommended fields not provided:
Specimen source,
Lab contact for this test,
Test strategy,
Test development
Conditions
Help
Total conditions: 184
Condition/Phenotype | Identifier |
---|
Test Targets
Chromosomal regions/Mitochondria
Help
Total chromosomal regions/mitochondria: 36
Chromosomal region/Mitochondrion | Associated condition |
---|
Genes
Help
Total genes: 126
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
Microarray
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis
Clinical utility:
Help
Establish or confirm diagnosis
Target population:
Help
Rearrangement syndromes. Detection of duplications and deletions with aCGH technology using 400.000 probes.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
Help
Available
Test Platform:
Agilent SurePrint G3 Human CGH Microarray custom design
Test Confirmation:
Help
Available
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Under the parameters at which samples are analyzed, sensitivity and specificity for copy number variants in the target regions is +98%
Assay limitations:
Help
Mosaic alterations lower than 30%
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
Clinical resources:
Molecular 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.