Blackfan-Diamond Syndrome

Diamond-Blackfan anemia usually presents with hypoplastic anemia in early infancy. Hematologic examination shows macrocytosis and a decrease in erythroid precursors. At least 40% of affected children have congenital anomalies including malformations of the thumb and upper limbs, craniofacial abnormalities including cleft lip and palate, heart defects and growth retardation. Affected individuals are at increased risk to develop leukemia. Defects in over 6 different ribosomal proteins have been implicated. This test addresses the 3 most commonly involved ribosomal protein genes, RPS19, RPL5 and RPL11.

Tests Available

Forms and Documents

Test Details

GATA1, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS29, RPS7
  • Confirmation of a clinical diagnosis.
  • Prenatal diagnosis in at-risk pregnancies.
  • Identification of very mild or clinically silent cases.
  • Confirmation that a potential hematopoietic stem cell transplant donor is not affected.


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81405x1, 81479x1
For price inquiries please email

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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  2. Quarello P et al, 2008, Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RSP19 deficiency, Haematologica 93:1748 (letter).
  3. Gazda HT et al. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. British Journal Of Haematology. 2004 Oct 127(1):105-13.15384984.
  4. Gazda H 2008, Ribosomal Protein L5 and L11 Mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients, Am J Hum Gen 83:1-12.
  5. Cmejla R, 2009, Identification of mutations in the Ribosomal Protein L5 and Ribosomal Protein L11 Genes in Czech patients with Diamond-Blackfan anemia, Hum Mut 30321-327.
  6. Quarello P et al. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Haematologica. 2010 95(2):206-13.19773262.
  7. Farrar JE et al. Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood. 2008 Sep 1 112(5):1582-92.18535205.
  8. Doherty L et al. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. American Journal Of Human Genetics. 2010 86(2):222-8.20116044.
  9. Gazda HT et al. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. American Journal Of Human Genetics. 2006 79(6):1110-8.17186470.
  10. Boria et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Human Mutation. 2010 31(12):1269-79.20960466.
  11. Chae H et al. Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. Experimental & Molecular Medicine. 2014 46:e88.24675553.
  12. Smetanina NS et al. Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. Pediatric Blood & Cancer. 2015 Sep 62(9):1597-600.25946618.
  13. Landowski M et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Human Genetics. 2013 Nov 132(11):1265-74.23812780.
  14. Farrar JE et al. Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. American Journal Of Hematology. 2014 Oct 89(10):985-91.25042156.
  15. Mirabello L et al. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood. 2014 Jul 3 124(1):24-32.24829207.
  16. Gazda HT et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Human Mutation. 2012 33(7):1037-44.22431104.
  17. Sankaran VG et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. The Journal Of Clinical Investigation. 2012 Jul 122(7):2439-43.22706301.
  18. Ludwig et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nature Medicine. 2014 Jul 20(7):748-53.24952648