This type of Preimplantation Genetic Diagnosis (PGD) will determine the HLA haplotype of embryos, for the purpose of selecting the unaffected, HLA-matched embryos which will act as a suitable donor for the treatment of an affected sibling (mainly through transplantation of hematopoietic progenitor cells derived from umbilico-placental blood during birth and/or bone marrow).
It is performed on single blastomeres (day 3 embryo biopsy) or blastocyst cells (day 5 blastocyst biopsy).
HLA-matching, through analysis of highly polymorphic STR markers, may include HLA-haplotyping ONLY (e.g. for leukemias) or incorporate parallel analysis for parental mutations of the gene disorder (e.g. thalassemias, other genetic disorders of the immune/ hematopoietic system). See our relevant publication: Pangalos C. et al, Fetal Diagn Ther. 2008; 24(4):395-9.