Educational Articles

Difference Between Screening and Diagnostic Genetic Testing

Screening estimates risk; diagnostic tests provide definitive results.

Educational Articles

Screening

NIPT, carrier screening, newborn screening.

Diagnostic

Amniocentesis, CVS, WES.

Key point

Positive screening results require diagnostic confirmation.

Frequently Asked Questions

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Gene Negar Ayandegan · Difference Between Screening and Diagnostic Genetic Testing