Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000570009.1
Registered in GTR:
2020-01-13
View version history
GTR000570009.1,
registered in GTR:
2020-01-13
Last annual review date for the lab: 2024-10-31
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (184):
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Chromosome 1p36 deletion syndrome;
11p partial monosomy syndrome;
11q partial monosomy syndrome
more...
Genes (126):
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Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
Detection of deletions and duplications with comparative hybridization technique with …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
- Health Care Provider
Test Order Code:
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150670
Contact Policy:
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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:
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Test service:
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Custom Deletion/Duplication Testing
OrderCode: qChip 1M
OrderCode: qChip 1M
Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 184
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 36
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Genes
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Total genes: 126
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Microarray
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Establish or confirm diagnosis
Target population:
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Detection of deletions and duplications with comparative hybridization technique with 1 million 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:
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Available
Test Platform:
Agilent SurePrint G3 Human CGH Microarray custom design
Test Confirmation:
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Available
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Under the parameters at which samples are analyzed, sensitivity and specificity for copy number variants in the target regions is +98%
Assay limitations:
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Mosaic alterations lower than 30%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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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:
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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.