ARUP's Laboratory Test Directory

RhEe Antigen (RHCE) Genotyping : 0050423
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Time Sensitive
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Patient History for Fetal Molecular Testing


Mnemonic: RH E

Methodology: Polymerase Chain Reaction/Fluorescent Monitoring
Performed: Tue, Thu, Sat
Reported: 2-7 days
Specimen Required: Collect: Fetal Specimen: Two T-25 flasks at 80% 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. Or amniotic fluid.
AND Maternal Cell Contamination Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

OR Whole Blood in lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluency of cultured amniocytes filled with culture media. Backup cultures must be retained the client's institution until testing is complete.
OR Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)
AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood (Min: 1 mL)

OR Whole Blood: Transport 3 mL whole blood (Min: 1 mL)

Storage/Transport Temperature: Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic fluid: Room temperature.
Whole Blood or Maternal Cell Contamination Specimen: Room temperature.

Remarks: Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability (collection to initiation of testing): Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Whole Blood or Maternal Cell contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
Homozygous Rh EE: This specimen has two copies of Rh E allele.
Heterozygous Rh Ee: This specimen has one copy of Rh E and one copy of Rh e.
Homozygous Rh ee: This specimen has two copies of Rh e allele.
Interpretive Data: Background Information for RhEe Antigen (RHCE) Genotyping
Characteristics: Fetal or neonatal alloimmune hemolytic disease, erythroblastosis, hydrops
Incidence: 13 percent of hydrops fetalis is caused by antigen-antibody mediated red cell hemolysis.
Inheritance: Autosomal recessive
Cause: Maternal-fetal Rh E/e antigen incompatibility
Polymorphism Tested: c.676G>C (p.A226P) in the RHCE gene
Clinical Sensitivity: Unknown
Methods: PCR of exon 5 of RHCE gene followed by fluorescent monitoring.
Analytic Sensitivity and Specificity: 99 percent
Limitations: Bloody amniotic fluid specimens may give false-negative results because of maternal cell contamination; specificity may be compromised by mutations in primer sites or those outside the RHCE exons examined; fetuses predicted to be unaffected should continue to be monitored by noninvasive means.

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.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Refer to Statement C under Testing Information at http://www.aruplab.com.
Note: For the Delta OD 450 nm, refer to Amniotic Bilirubin Scan (0080276).
CPT Code(s): 83891 Isolation; 83896 x2 Nucleic acid probes; 83898 Amplification; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
 
 

 

 

 
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