Predict the expression of RBC antigen specificities to aid in selection of antigen-negative RBCs for transfusion, assess risk for hemolytic disease of the fetus and newborn, or resolve conflicting serological antibody results. May be ordered for genotying on whole blood specimens or for fetal genotyping. Test does not assess for RhD.
Polymerase Chain Reaction/Fluorescence Monitoring
Genotyping: Lavender (K2EDTA), Pink (K2EDTA) OR
Fetal Genotyping: Amniotic fluid OR two T-25 flasks at 80 percent confluency of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.
WITH Maternal Cell Contamination Specimen (see Remarks): Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Genotyping: Transport 3 mL whole blood. (Min: 1 mL)
Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)
Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80 percent confluency of cultured amniocytes filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
Maternal Cell Contamination Specimen: Transport 3 mL whole blood (Min: 1 mL)
Whole Blood or Maternal Cell Contamination Specimen: Refrigerated.
Amniotic fluid: Room temperature.
Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Plasma or serum; collection of specimen in sodium heparin tubes.
Maternal specimen is recommended for proper test interpretation if contamination of the fetal specimen from the mother is suspected. Order Maternal Cell Contamination.
Whole Blood or Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Background Information for Red Blood Cell Antigen Genotyping:
Characteristics: Erythrocyte alloimmunization may result in hemolytic transfusion reactions or hemolytic disease of the fetus and newborn (HDFN). Clinical presentation is variable and dependent on the specific antibody and recipient factors.
Incidence: Erythrocyte alloimmunization occurs in up to 58 percent of sickle cell patients, up to 35 percent in other transfusion-dependent patients, and in approximately 0.8 percent of all pregnant women.
Inheritance: Typically co-dominant for red blood cell (RBC) antigens, autosomal recessive for hemoglobin S (HbS).
Cause: Antigen-antibody mediated red-cell hemolysis between donor/recipient or transferred maternal antibodies.
Variants Tested: See the "Additional Technical Information" document.
Clinical Sensitivity: >99 percent for c (RH4), C (RH2), e (RH5), E (RH3), k (KEL2), K (KEL1), Jka (JK1), Jkb (JK2), Fya (FY1), Fyb (FY2), M (MNS1), N (MNS2), S (MNS3), s (MNS4). Unknown for Kpa (KEL3), Kpb (KEL4), Jsa (KEL6), Jsb (KEL7), Lua (LU1), Lub (LU2), Dia (DI1), Dib (DI2), Coa (CO1), Cob (CO2), Doa (DO1), Dob (DO2), Joa (DO5), Hy (DO4), LWa (LW5), LWb (LW7), Sc1 (SC1), Sc2 (SC2), U (MNS5), V (RH10), VS (RH20), Hemoglobin S (HbS).
Methodology: Immucor PreciseType™ HEA Molecular BeadChip which is FDA-approved for clinical testing. Predicted phenotypes are reported for each antigen and HbS based on the variants tested.
Analytical Sensitivity and Specificity: >99 percent for c (RH4), C (RH2), e (RH5), E (RH3), k (KEL2), K (KEL1), Jka (JK1), Jkb (JK2), Fya (FY1), Fyb (FY2), M (MNS1), N (MNS2), S (MNS3), s (MNS4). Unknown for Kpa (KEL3), Kpb (KEL4), Jsa (KEL6), Jsb (KEL7), Lua (LU1), Lub (LU2), Dia (DI1), Dib (DI2), Coa (CO1), Cob (CO2), Doa (DO1), Dob (DO2), Joa (DO5), Hy (DO4), LWa (LW5), LWb (LW7), Sc1 (SC1), Sc2 (SC2), U (MNS5), V (RH10), VS (RH20), Hemoglobin S (HbS).
Limitations: Only the targeted variants will be interrogated. Rare nucleotide changes leading to altered or partial antigen expression and null phenotypes may not be detected by this assay. This assay does not assess for RhD nor is it designed to diagnose sickle cell disease. Patients who have had hematopoietic stem cell transplants may have inconclusive results on this test. Abnormal signal intensities may result in indeterminate genotyping results for all tested antigens/HbS.
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|3001054||RBC Antigen Genotyping Specimen||31208-2|
|3001055||Rh Antigen C/c|
|3001056||Rh Antigen E/e|
|3001057||Rh Antigen V/VS|
|3001058||Kell Antigen K/k|
|3001059||Kell Antigen Kpa/Kpb|
|3001060||Kell Antigen Jsa/Jsb|
|3001061||Duffy Antigen Fya/Fyb|
|3001062||Kidd Antigen Jka/Jkb|
|3001063||MNS Antigen MN|
|3001064||MNS Antigen S/s/U|
|3001065||Lutheran Antigen Lua/Lub|
|3001066||Dombrock Antigen Doa/Dob|
|3001067||Dombrock Antigen Hy|
|3001068||Dombrock Antigen Joa|
|3001069||Landsteiner-Wiener Antigen LWa/LWb|
|3001070||Diego Antigen Dia/Dib|
|3001071||Colton Antigen Coa/Cob|
|3001072||Scianna Antigen Sc1/Sc2|
|3001073||Hemoglobin S Antigen|
|3001074||RBC Antigen Genotyping Interpretation||50398-7|
- Colton genotyping (Coa, Cob)
- Diego genotyping (Dia, Dib)
- Dombrock genotyping (Doa, Dob, Hy, Joa)
- Duffy genotyping (Fya, Fyb, Fyb-67C)
- Kell genotyping (K, k, Kpa, Kpb, Jsa, Jsb)
- Kidd genotyping (Jka, Jkb)
- Landsteiner-Wiener genotyping (LWa, LWb)
- Lutheran genotyping (Lua, Lub)
- MNS genotyping (M, N, S, s, U, Uvar, Uneg)
- Rh genotyping (C, c, E, e, V, VS)
- Scianna genotyping (Sc1, Sc2)