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GTR Home > Tests > Diamond-Blackfan Anemia Panel


Test name


Diamond-Blackfan Anemia Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Prognostic, Risk Assessment



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Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

  • 1. Wilson, D.B., et al., Inherited bone marrow failure syndromes in adolescents and young adults. Ann Med, 2014: p. 1-11. 2. Vlachos, A., et al., Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. Blood, 2012. 119(16): p. 3815-9. 3. Gazda, H.T., et al., Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet, 2008. 83(6): p. 769-80. 4. Farrar, J.E., et al., Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood, 2008. 112(5): p. 1582-92. 5. Doherty, L., et al., Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. Am J Hum Genet, 2010. 86(2): p. 222-8. 6. Gerrard, G., et al., Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. Br J Haematol, 2013. 162(4): p. 530-6. 7. Willig, T.

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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