GTR Test Accession:
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GTR000569431.2
CAP
Last updated in GTR: 2021-02-17
View version history
GTR000569431.2, last updated: 2021-02-17
GTR000569431.1, last updated: 2020-10-13
Last annual review date for the lab: 2023-10-10
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At a Glance
Test purpose:
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Screening
Conditions (3):
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Down syndrome;
Complete trisomy 13 syndrome;
Trisomy 18
Trisomy 13 (Patau syndrome);
Trisomy 18 (Edwards syndrome);
Trisomy 21 (Down syndrome)
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Pregnant women that are interested in determining whether a twin …
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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- Cell-free DNA
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
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71002
How to Order:
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Tests can be ordered online or by submitting a paper requisition form.
Order URL
Order URL
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,
Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 3
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 3
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Screening
Target population:
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Pregnant women that are interested in determining whether a twin pregnancy is at increased risk for the chromosome disorders
Recommended fields not provided:
Clinical validity,
Clinical utility,
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
Test Procedure:
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Nucleic acid extraction, DNA sequencing, and analysis of sequencing results to determine fetal aneuploidy.
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity:
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Our technology, which uses whole-genome sequencing, offers a failure rate of less than 2%.
Assay limitations:
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This is a screening test that looks only for specific chromosomal abnormalities. A normal result does not eliminate the possibility that the pregnancy is associated with other chromosomal or subchromosomal abnormalities, birth defects, genetic conditions, or other conditions, such as open neural tube defects or autism. There is a small …
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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,
Description of internal test validation method,
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:
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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.