Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Patients who have had donor hematopoietic cells infused for the purpose of engraftment (ie, bone marrow transplant recipients) may have their blood or bone marrow monitored for an estimate of the percentage of donor and recipient cells present. This can be done by first identifying unique features of the donor's and the recipient's DNA prior to transplantation and then examining the recipient's blood or bone marrow after the transplantation procedure has occurred. The presence of both donor and recipient cells (chimerism) and the percentage of donor cells are indicators of transplant success.
Short tandem repeat (STR) sequences are used as identity markers. STRs are di-, tri-, or tetra-nucleotide repeat sequences interspersed throughout the genome at specific sites. There is variability in STR length among people and the STR lengths remain stable throughout life, making them useful as identity markers. PCR is used to amplify selected STR regions from germline DNA of both donor and recipient. The lengths of the amplified fragment are evaluated for differences (informative markers). Following allogeneic hematopoietic cell infusion, the recipient blood or bone marrow can again be evaluated for the informative STR regions to identify chimerism and estimate the proportions of donor and recipient cells in the specimen.
Determining the relative amounts of donor and recipient cells in a specimen
An indicator of bone marrow transplant success
An interpretive report is provided, which includes whether chimerism is detected or not and, if detected, the approximate percentage of donor and recipient cells. Sorted cell analysis permits more detailed evaluation of chimeric status in T-cell and myeloid cell fractions, which can be helpful in clinical management.
It is most useful to observe a trend in chimerism levels. Clinically critical results should be confirmed with 1 or more subsequent specimens.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Sensitivity varies with the proportions of donor and recipient cells in the specimen. For this reason, results are reported as approximate and rounded to the nearest 5% or 10%, depending on the calculated percentage of donor cells. For example, if the percent donor is < or =10%, it is reported as 5% donor cells. If the percent donor cells are > or =90%, it is reported as 95% donor cells. In rare cases (eg, matched related stem cell transplants), short tandem repeat (STR) patterns may be identical (ie, noninformative) and chimeric status cannot be determined with this test. Use of alternative approaches (eg, XY FISH in patients with opposite sex transplants) may be required.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Clinical References Provides recommendations for further in-depth reading of a clinical nature
Antin JH, Childs R, Filipovich AH, et al: Establishment of complete and mixed donor chimerism after allogenic lymphohematopoietic transplantation: recommendations from a workshop at the 2001 Tandem Meetings. Biol Blood Marrow Transplant 2001;7:473-485