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: and Transport: Cultured cells: Two T-25 flasks at 80% confluent of cultured amniocytes. Fill flasks with culture media to ship at 20-25°C. Backup cultures must be retained at the client's institution until testing is complete. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.
Maternal sample: One 3 mL whole blood, lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B) at 20-25°C.
Amniotic fluid: 10 mL unspun fluid at 20-25°C. (Min: 5 mL)

Storage/Transport Temperature:

Remarks: Fetal specimens are CRITICAL AMBIENT and must be received within 48 hours of shipment due to liability of cells. Maternal whole blood specimen is recommended for proper fetal testing interpretation. Order Maternal Cell (MCC MAT) (0050608).
Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability (collection to initiation of testing): Cultured cells or amniotic fluid: Ambient: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable
Whole blood: Ambient: 3 days; 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 provide a confirmation of the above result at no charge. Following delivery, please collect a cord blood sample from the infant in a lavender (EDTA) or yellow (ACD Solution A or B) top tube and transport 1mL cord blood at 2-8 °C. Please specify on the test request form that this is a confirmatory study to be performed at no charge. Please provide the mother's name for specimen identification purposes.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
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Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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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