SCIENTIFIC BACKGROUND

HBA

Category:

Background

The Adventia Alpha Thalassemia Focus Panel analyzes the HBA gene cluster (HBZ, HBM, HBA1, HBA2, HBQ1) and its HS-40 regulatory region. Analysis is performed by MLPA for detection of small deletions and duplications. The presence of Constant Spring Mutation is also tested via MLPA.

 

Detection rate is >90% of affected cases.

 

What diseases are associated with the genes tested in this panel?

Alpha Thalassemia

 

Note: Testing for A-Thalassemia via the Adventia Core or Comprehensive panel is performed via Target Capture Enrichment Technology utilizing Next Generation Sequencing, which yields higher detection rates. More information on the detection rates can be found on the Adventia Carrier Screening page. 

GENES

HBA
How to order

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