Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593843.2
CAP
Last updated in GTR:
2021-08-24
View version history
GTR000593843.2,
last updated:
2021-08-24
GTR000593843.1,
registered in GTR:
2021-08-23
Last annual review date for the lab: 2024-06-14
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At a Glance
Methods (1):
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Cytogenetics - Karyotyping: G-banding
Target population: Help
Individuals who had previous chromosome or microarray analysis done and …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Fresh tissue
- Skin
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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TIS5CC
View other test codes
View other test codes
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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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Order URL
Test service:
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Cryopreservation of Cultured Cells
Comment: Additional charges apply
Comment: Additional charges apply
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Test strategy:
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Reflex to microarray analysis available
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test
Conditions
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Total conditions: 323
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Karyotyping
G-banding
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Individuals who had previous chromosome or microarray analysis done and need a confirmation of previous result or abbreviated chromosome analysis done on tissue sample such as a skin biopsy sample (e.g. previous chromosome or microarray analysis done on different tissue type, e.g. blood sample). Products of conception tissue from pregnancy …
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Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No.
No.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Minimal band resolution is 400 bands. This test analyzes 5 metaphase cells to identify numerical and/or structural chromosome abnormalities.
Assay limitations:
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Mosaicism likely will not be detected.
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
College of American Pathologists, CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation,
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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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
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.