Furthermore, in another FA patient (ID 2), OGM was able to detect a small deletion of 143 kbp in chromosome 16q with a VAF of 56%, which corresponds to the deletion of exons 1–43 of the FANCA gene (Figure 2), which, together with the c.1115_1118del, p.(Val372Alafs*42) variant found in exon 13 of the FANCA gene by sequencing techniques, confers the FA diagnosis upon the patient. Here, FANCA is linked to Friedreich ataxia.