The Genomics Testing Laboratory primarily performs molecular testing to identify genetic mutations and polymorphisms for Red Cell antigens.
Using molecular methods it is possible to identify genetic variations that control expression of red cell antigens on the cell surface. This can be done using patient, amniocyte or a blood donor DNA; intact red cells are not needed. Some examples of uses for genomic testing of red cell blood groups include:
- Patients that have been multiply transfused, or have pre-existing red cell antibodies that make serological red cell phenotyping not possible. In these situations, genotyping provides the red cell phenotype so that a transfusion service can provide partial or fully antigen matched red cells for transfusion.
- Certain patient populations require regular red cell transfusions and are at risk for making multiple red cell antibodies. Genetic testing of red cells can help to provide closer matches when selecting antigen matched cells for transfusion.
- Patients that have rare red cell phenotypes in which no commercially available anti-sera is available, such as Dombrock.
- Resolve discrepant serological testing results in blood donors and patients
In potential cases of hemolytic disease of the fetus and newborn (HDFN) blood group genomic testing can determine fetal blood group typing to help guide fetal monitoring during pregnancy.
Paternal zygosity of the father of the fetus is a modality that can predict the fetal red cell phenotype. Most red cell antigens including RhD are now available.
Puget Sound Blood Center performs DNA-based tests for the fields of Red Cell Blood Groups, Hemostasis/Thrombosis, Hemophilia, Platelets, HLA, and Neutrophils. These molecular tests are powerful tools in the treatment and diagnosis of certain disorders. Other DNA-based tests can be found at specific laboratory sites which are listed below.