This panel of four preparations was produced from genomic DNA (gDNA) extracted from immortalized cell lines produced by Epstein-Barr virus transformation of lymphocytes from blood samples of consented donors. The samples were obtained from two normal individuals (male and female), an intron 22 inversion-positive female carrier and an intron 22 inversion-positive 3-MA datasheet male. An international collaborative study involving fourteen laboratories, employing a total of six different methods with three different underlying principles, evaluated the suitability of the proposed panel of gDNA samples

as the 1st International Genetic Reference Panel for Hemophilia A Intron 22 Inversion, Human gDNA. With the exception of one laboratory that returned erroneous results, all other participants were able to genotype every coded sample correctly. All errors concerned the intron 22 inversion-positive female carrier DNA, which was genotyped as a normal individual. With three incorrect results in 166 tests, the overall error rate for this study was 1.8%. These data indicate that errors in genotyping MG 132 can occur and the vast majority of laboratories can use these materials to obtain the correct result. They also show that the panel is suitable for use as reference materials for normal females, normal

males, intron 22 inversion-positive female carriers, and intron 22 inversion-positive affected males. With the exception of one laboratory that did not run known patient samples as in-assay control, all other labs employed appropriate assay control, thereby confirming

the commutability of the panel. In 2008, the World Health Organisation (WHO) established this stable reference panel of genomic-DNA (gDNA) (NIBSC Code, 08/160) to support the genetic testing of intron 22 mutation [45]. This panel RANTES has been distributed worldwide and has proven to be useful in aiding laboratories to set up and validate their methods. The success of this panel establishes the basis for the future production of genetic reference materials for bleeding disorders. With the advent of molecular genetic techniques, it is obvious that several aspects of care for patients with bleeding disorders have improved substantially over the last five decades. Along with accurate genetic diagnosis of haemophilia and other bleeding disorders, molecular genetics has further enhanced our understanding of the functional biology of proteins involved in blood coagulation, elucidated the basis of inhibitor development and informed new therapeutic approaches such as development of newer clotting factor concentrates and gene therapy. The authors stated that they had no interests which might be perceived as posing a conflict or bias. “
“Factor VIII (FVIII) is a multidomain blood plasma glycoprotein.