For fetal RhE genotyping, amniocentesis/CVS specimen required.
For parental RhE genotyping, blood sample required.
Refer to Specimen Required section below for more specifics.
- Patient Preparation
- 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 (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Parental Genotyping: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- 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 the client's institution until testing is complete.
Maternal Cell Contamination Specimen: Transport 3 mL whole blood (Min: 1 mL)
Whole Blood (Parental Genotyping): Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Amniotic fluid: Room temperature.
Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Whole Blood or Maternal Cell Contamination Specimen: Refrigerated or room temperature.
- Unacceptable Conditions
- Maternal specimen is recommended for proper test interpretation if contamination of the fetal specimen from the mother is suspected. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.
- Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Whole Blood or Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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. Diagnostic errors can occur due to rare sequence variations.
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.
|Component Test Code*||Component Chart Name||LOINC|
|0050423||RhEe Antigen (RHCE) Genotyping|
|0051775||RhEe Antigen (RHCE) Specimen|
- RHCE genotyping