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NIPT Basic
Clinical Genetic Test
Help
offered by
CIBIC S.A.
View lab's test page
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GTR Test Accession: Help GTR000607910.1
INHERITED DISEASESYNDROMIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2023-06-13
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Last annual review date for the lab: 2024-05-15 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (11): Help
Down syndrome; 4p partial monosomy syndrome; Aneuploidy more...
Chromosomal regions/ Mitochondria (4): Help
Chromosome 13; Chromosome 18; Chromosome 21; Sex chromosomes
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
CIBIC S.A.
View lab's website
View lab's test page
Test short name: Help
NIPT
Specimen Source: Help
  • Peripheral (whole) blood
Test Order Code: Help
2735
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 11
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 4
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is performed with positive and negative controls. The test is 99.5% accurate. In some cases where the deletion is very small or there are point mutations, the probe may show a normal result.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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: Help
Not provided
Additional Information

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.