GTR Home > Tests > Test for Goldberg-Shprintzen Megacolon Syndrome

Overview

Conditions for which test is offered: Goldberg-Shprintzen Megacolon Syndrome

Testing Method

  • Molecular Genetics
    • Sequence analysis of the entire coding region

Test services

  • Prenatal testing
  • Carrier testing

Contact Policy Help

Pre-test email/phone consultation regarding genetic test utilization and decision making is provided to patients/families.

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.

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