Red Blood Cell Antigen Genotyping

3001053
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Additional Technical Information

Ordering Recommendation

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.

Mnemonic

RBC GENO

Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Sun-Sat

Reported

3-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

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).

Specimen Preparation

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)

Storage/Transport Temperature

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.

Unacceptable Conditions

Plasma or serum; collection of specimen in sodium heparin tubes. Frozen specimens in glass collection tubes.

Remarks

Maternal specimen is recommended for proper test interpretation if contamination of the fetal specimen from the mother is suspected. Order Maternal Cell Contamination.

Stability

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

Reference Interval

Interpretive Data

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.

Compliance Category

FDA

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/17/2021
X
08/17/2020
X
X
X
N/A

CPT Codes

0001U

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Components

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • 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)
Red Blood Cell Antigen Genotyping