Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000611989.2
Last updated in GTR: 2024-07-11
View version history
GTR000611989.2, last updated: 2024-07-11
GTR000611989.1, last updated: 2023-10-04
Last annual review date for the lab: 2024-07-11
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At a Glance
Methods (1):
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Cytogenetics - FISH-interphase: Fluorescence in situ hybridization (FISH)
Target population: Help
Rapid detection of aneuploidy involving chromosomes X, Y, 13, 18, …
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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- Amniotic fluid
- Chorionic villi
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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Chromosome FISH, Prenatal (amniotic fluid) - test code 2002297;
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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This test must be ordered using a Cytogenetic test request form 43098 or through your ARUP interface. Please submit the Patient History for Prenatal Cytogenetics form with the electronic packing list (https://ltd.aruplab.com/Tests/Pdf/65).
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 8
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
FISH-interphase
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
Target population:
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Rapid detection of aneuploidy involving chromosomes X, Y, 13, 18, and 21 in prenatal samples. Assay offered in conjunction with chromosome study.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Decline to answer.
Decline to answer.
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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FISH validation studies have demonstrated greater than 99% analytical sensitivity for detecting aneuploidy of chromosomes 13, 18, 21, X and Y.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation,
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Molecular 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.