These testing strategies can be categorized into two groups based on the type of variants being analyzed. The first group involves copy number variations (CNVs), encompassing large deletions and duplications, while the second group focuses on single nucleotide variations (SNVs), which include non-deletional variants.

From: Chapter 1, EPIDEMIOLOGY, PATHOPHYSIOLOGY AND DIAGNOSIS OF α-THALASSAEMIA

Cover of Guidelines for the Management of α-Thalassaemia
Guidelines for the Management of α-Thalassaemia [Internet].
Amid A, Lal A, Coates TD, et al., editors.
Nicosia (Cyprus): Thalassaemia International Federation; 2023.
© Thalassaemia International Federation.

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