Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593804.4
CAP
Last updated in GTR: 2021-08-24
View version history
GTR000593804.4, last updated: 2021-08-24
GTR000593804.3, last updated: 2021-08-23
GTR000593804.2, last updated: 2021-08-20
GTR000593804.1, last updated: 2021-08-19
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 with suspected aneuploidy or other numerical/structural chromosomal abnormality. Newborns …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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Blood chromosome analysis, blood karyotyping
Specimen Source:
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- Cord blood
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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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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Custom Balanced Chromosome Rearrangement Studies
Comment: Additional charges apply
Custom Deletion/Duplication Testing
Comment: Additional charges apply
Mosaicism Study (Extended Cell Count, 50-Cell Study)
Comment: Additional charges apply
Comment: Additional charges apply
Custom Deletion/Duplication Testing
Comment: Additional charges apply
Mosaicism Study (Extended Cell Count, 50-Cell Study)
Comment: Additional charges apply
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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;
Risk Assessment
Target population:
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Individuals with suspected aneuploidy or other numerical/structural chromosomal abnormality. Newborns with ambiguous genitalia. Individuals with family history of structural chromosome rearrangement, such as a reciprocal translocation, Robertsonian translocation, and pericentric inversion. Individuals with history of recurrent pregnancy loss.
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 550 bands. This test analyzes 20 metaphase cells to identify numerical and structural chromosome abnormalities and can detect mosaicism down to 20% of cells at 95th confidence interval. Mosaicism study (50-cell extended cell count evaluation) available, which can detect mosaicism down to 6% of cells at …
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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,
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:
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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.