GTR Test Accession:
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GTR000556619.1
Last updated in GTR: 2017-08-17
View version history
GTR000556619.1, last updated: 2017-08-17
Last annual review date for the lab: 2023-10-05
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At a Glance
Test purpose:
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Diagnosis
Conditions (4):
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Partial duplication of the short arm of chromosome 16;
Complete trisomy 13 syndrome;
Down syndrome
more...
Methods (1):
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Cytogenetics - FISH-interphase: Fluorescence in situ hybridization (FISH)
Target population: Help
Universal
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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Test short name:
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FISH study in Abortus(chromosome 13,16,18,21,X and Y)
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Bone marrow
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Fresh tissue
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Order URL
Test service:
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Genetic counseling
Result interpretation
Result interpretation
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
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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Based on applicable state law
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 6
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 *
FISH-interphase
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Target population:
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Universal
View citations (1)
- Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Jobanputra V, et al. Hum Reprod. 2002;17(5):1166-70. doi:10.1093/humrep/17.5.1166. PMID: 11980734.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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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The Fluorescence in situ hybridization is greater than 99% sensitive and specific.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-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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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
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.