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Purpose Description of the confluence of different molecular techniques to detect three different mutations in one cell. The man carries a 20 base pair insertion in exon 12 of the POR gene (c.1551_1552ins20), and the woman carries a point mutation in exon 8 of the POR gene (c.859G>C) plus a triplet repeat expansion in the HTT gene.

Preimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring.

Purpose Governments and international authorities require an accreditation of the PGD/PGS laboratories in order to ensure the safety and reproducibility of these analytical procedures. The implementation of a Quality Management System is the first mandatory step prior to accreditation. Our aim is to offer a detailed guidance to the PGD/PGS community that would like to implement this system in the future. Methods The certification was based on the norm ISO 9001:2000 and requires the identification of procedures, definition of the flowchart, documentation of the processes, recognition of the critical control points, establishment of quality controls, performance of validation and audit system. Results The achievement of ISO certification with the specific scope of "preimplantation genetic diagnosis". Conclusion Certification of PGD/PGS allows to achieve evaluation of the efficiency to ensure the sensitivity and a continuous improvement of the genetic diagnosis of embryonic single cells.

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