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GTR Home > Tests > Diamond-Blackfan Anemia and Bone Marrow Failure via the RPS17 Gene

How to order

Test Order CodeHelp: 2759

How To Order

Laboratory's Test Page



How To Order


Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL Help: https://www.preventiongenetics.com/forms.php

Informed Consent Required Help: No

Specimen Source

  • Fetal blood
  • Fibroblasts
  • White blood cell prep
  • Cell culture
  • Peripheral (whole) blood
  • Isolated DNA
  • Fresh tissue

Specimen requirements: https://www.preventiongenetics.com/ClinicalTesting/specimenRequirements

Test Codes


Other test codes on lab website

Test Orderable By

  • Genetic Counselor
  • Licensed Physician
  • Health Care Provider

Test services

  • Custom Sequence Analysis, Order code: 100, 200, 300
  • Maternal cell contamination study (MCC), Order code: 800
  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 2759
  • Custom Prenatal Testing, Order code: 990

Ordering Requirements

Genetic Counseling Required Pre-test Help
Genetic Counseling Required Post-test Help

Contact Policy


Not provided

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.