Haemophilia A (HA) is an X-linked recessive coagulation disorder affecting 1 in 5000 male newborns. In both proband and his mother, the IS-PCR diagnostic test showed a 333 bp fragment corresponding to the int22h1/h3 chimera generated by Inv22-type1 or Del22-type1 (Figure S2). Inv22 analysis using IS-PCR revealed a novel pattern in the proband. References are given in Supplementary file. gl To date, IS-PCR is the first tier Dx test for severe HA, and further clinical testing usually ends after identifying Inv22 or Inv1. [Extracted from the article]