Invitae Diamond-Blackfan Anemia Panel


Test description

This test analyzes 10 genes that are associated with Diamond-Blackfan anemia (DBA). Diamond-Blackfan anemia is a genetically heterogeneous condition characterized by anemia, congenital malformations, growth restriction, and an increased risk for leukemia and sarcoma.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Primary panel (10 genes)


Alternative tests to consider

These genes can also be ordered as part of a broader panel. Depending on the individual’s clinical and family history, this panel may be appropriate and can be ordered at no additional charge.

Diamond-Blackfan anemia (DBA)

DBA is a congenital hematological condition that is characterized by macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a deficiency of red cell precursors. While the phenotypic spectrum can be mild to severe, approximately 90% of individuals with DBA will have some hematological symptoms within the first year of life. Congenital malformations, including craniofacial, upper limb, heart and genitourinary malformations, are seen in roughly 50% of individuals. Growth retardation is seen in roughly 30% of individuals. There is also an increased risk of developing acute myeloid leukemia, myelodysplastic syndrome, and solid tumors, including osteogenic sarcoma. Individuals with the non-classic form may have mild or absent anemia, a later age of onset, congenital abnormalities, or short stature with normal erythropoiesis, or they may be phenotypically normal.

Pathogenic variants in these genes account for an estimated 55%–65% of individuals with DBA.

GeneAttribution to DBA
GATA1 rare
RPL5 ~7%
RPL11 ~5%
RPL26 rare
RPL35A ~3%
RPS7 ~1%
RPS10 ~6%
RPS19 ~25%
RPS24 ~2%
RPS26 ~3%

DBA is inherited in an autosomal dominant pattern, except for GATA1-related DBA, which is inherited in an X-linked pattern.

Penetrance is incomplete.

The prevalence of DBA is estimated at 5–7 out of 1 million live births.

Testing for DBA should be considered in individuals with a personal and/or family history of:

  • macrocytic anemia with no significant cytopenia
  • reticulocytopenia
  • normocellular bone marrow with small amounts of erythroid precursors
  • congenital anomalies that have been described in DBA
  • leukemia and solid tumors presenting at a younger age than usually found
  • a family history of DBA

If the patient has undergone a bone marrow transplant prior to genetic testing or currently has a hematological malignancy with actively circulating tumor cells, testing a sample type that is not derived from blood (such as skin biopsy) is warranted. While we do not accept this sample type directly, we can accept gDNA derived from skin or muscle, but deletion/duplication analysis is not guaranteed for gDNA samples because the success rate varies based on sample quality. Please see our Sample requirements page for more details.

Recommendations for diagnosis and management of DBA were proposed at an international DBA clinical consensus conference:

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
GATA1 NM_002049.3
RPL11 NM_000975.3
RPL26 NM_000987.3
RPL35A NM_000996.2
RPL5 NM_000969.3
RPS10 NM_001014.4
RPS19 NM_001022.3
RPS24 NM_033022.3
RPS26 NM_001029.3
RPS7 NM_001011.3