Pathogenic Alu element insertions are rarely reported, whereas their occurrence 
is expected to be much higher. Alu containing alleles are usually out-competed 
during the PCR process and consequently undetectable with the classical 
screening methods. However, with the introduction of the next generation 
sequencing (NGS) technology in the diagnostic field, new opportunities are 
emerging. NGS data for a particular genomic region can be seen as the summation 
of all the individual sequences (reads) obtained for that region and no longer 
as the mean of this sum as it is the case for traditional Sanger sequencing. 
Because each single read covering that region is expected to be generated from a 
different template molecule, the presence of one single mutant read must 
theoretically be sufficient to identify the mutation. However, generation and 
identification of mutant reads bearing Alu insertions remains challenging and 
several wet/dry bench parameters need to be optimized. Hereby we present the 
proof of principle of a NGS-based mutation screening procedure allowing the 
detection of inherited Alu insertions within any predefined sequence by 
investigating 2 cases: c.1739_1740insAlu in BRCA1 and c.156_157insAlu in BRCA2.