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GTR Home > Tests > Karyotype

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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For the validation, samples of the external quality control CAP were analyzed, finding 100% concordance in the reported results. The analysis of 25 metaphases allows ruling out mosaicism greater than 12% with 95% confidence limit. The resolution to detect alterations is 5 to 10 Mb.

Citations

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Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

FDA Regulatory Clearances of the Test

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Not provided

Practice guidelines

  • NSGC, 2021
    National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.