Diamond Blackfan Anemia Gene Panel Test Cost & Procedure

Description

Anemia with infantile or early childhood onset is a defining feature of Diamond Blackfan anemia (DBA), a condition caused by hereditary bone marrow failure. Growth retardation and/or congenital abnormalities of the limbs, brain, face, heart, and/or genitourinary system are present in between 30% and 50% of individuals. Individuals with DBA are more likely to develop tumorsumours and hematological cancers such as myeloidmyelod leukemia, myelodysplastic syndrome, and osteogenic sarcoma. DBA is a hereditary, autosomal dominant condition with a complex genetic makeup. This panel includes X-linked thrombocytopenia secondary to pathogenic mutations in GATA1 with or without anemia due to phenotypic overlap with DBA.

Affected parents account for about 45% of cases, while de novo mutations account for 55% of them. As a result of DBA's imperfect penetrance, certain people with pathogenic variations might not fit the diagnostic mold yet nevertheless be more likely to get cancer than average. The detection of somatic variants in tumor tissue is not suited for this test because it is specially developed to identify germline harmful mutations. All of the genes listed in the panel have sequence and deletion/duplication analyses. 

Clinical traits

An unusual inherited bone marrow negligence illness understood as Diamond-Blackfan anemia (DBA) is illustrated by macrocytic anemia, typical leukocyte and platelet counts, and normocellular bone marrow. Around 40% of patients have bodily anomalies, for example, craniofacial dysmorphism, thumb and neck malformations, congenital heart defects, and genitourinary tract ailments. About 30% of patients show signs of growth retardation. Hematologic problems usually start to manifest in the first year of life. From moderate anemia with no clinical abnormalities to severe anemia with significant physical abnormalities, the disease's severity ranges. DBA also raises the risk of myelodysplastic syndrome (MDS), acute myeloid leukemia, and bone marrow failure (AML).

Test-Related Indications

Candidates for this test include people who exhibit Diamond-Blackfan anemia symptoms, signs of bone marrow loss, or MDS/AML. Potential donors and patients who exhibit symptoms of bone marrow failure but have tested negative for other conditions that cause bone marrow failure are also candidates for this test.

Reasons

RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, and RPS26 and more alleles related to Diamond-Blackfan anemia

Sample Requirements

Blood (two 4ml EDTA conduits with lavender tops) Extracted DNA or Buccal Swab or Saliva are the sample prerequisites.

Synopsis

consists of a 14-gene panel that also evaluates non-coding variations.

is the best treatment option for kids who have a clinical suspicion of Diamond-Blackfan anemia or transitory infantile erythroblastopenia (TEC). The Comprehensive Hematology Panel and the Anemia Panel both contain they genes on this panel.