Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

<table>Confirmation of the large <i>FANCI</i> deletion by Sanger sequencing. A part of exon 37 with a SNP was amplified with primers designed either up- or downstream of the deletion breakpoint. Sequence analyses resulted in the detection of the SNP (red arrow) as heterozygous or hemizygous, respectively.</table>

Anemia

fig3

Figure 3

Figure 3: Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing 