Diamond blackfan anemia gene panel

Diamond-Blackfan Anemia Gene Panel

Test Overview
Diamond-Blackfan Anemia (DBA) Gene Panel is a genetic test used to identify disease-causing variants in genes associated with Diamond-Blackfan anemia and related inherited bone marrow failure syndromes.

Why is this test done?

• Evaluation of suspected Diamond-Blackfan anemia
• Investigation of unexplained macrocytic anemia or bone marrow failure
• Assessment of congenital abnormalities associated with DBA
• Identification of an inherited genetic cause
• Supporting diagnosis, prognosis, and genetic counselling
• Family member testing when a pathogenic variant is identified

What does the test detect?
The panel analyzes multiple genes associated with DBA, particularly ribosomal protein genes and other genes implicated in related inherited disorders. Depending on the laboratory's panel design, analysis may include sequence variants and selected copy-number changes.

Sample Required
Peripheral blood, typically collected in an EDTA tube.

Who may benefit?
Individuals with suspected DBA, persistent unexplained anemia with low reticulocyte counts, congenital abnormalities suggestive of DBA, or a relevant family history.

Important Note
A genetic test result should be interpreted along with clinical findings, hematological investigations, and family history. A negative result does not completely exclude a genetic cause if the responsible gene or variant is not covered by the panel.

Genetic Counselling
Pre- and post-test genetic counselling may be recommended to understand the implications of the result for the patient and family members.