ARUP's Laboratory Test Directory

RhD Antigen (RhD) Genotyping : 0051368
[ image for: Patient History for Fetal Molecular Testing]
Patient History for Fetal Molecular Testing
  


Mnemonic: RHD

Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Mon, Thu
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:
By report
Interpretive Data: Background Information for RhD Antigen (RhD) Genotyping:
Characteristics:
Fetal or neonatal erythroblastosis and hydrops.
Incidence of Rhd negative genotype:
15% Caucasians, 5% African Americans, less than 1% Asians
Inheritance:
Autosomal recessive
Cause:
Maternal-fetal Rh D antigen incompatibility
Methods:
Determine the presence of the RHD exons 5, 7, and a 37 base pair insertion in the intron 3/exon 4 boundary by PCR and fluorescence monitoring.
Allelic height ratios are used to determine the number of copies of RHD as compared to RHCE.
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 RHD exons examined; fetuses predicted to be unaffected should continue to be monitored by noninvasive means.
Analytic Sensitivity and Specificity:
Greater than 99%
Clinical Sensitivity:
Greater than 98%

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 Amniotic Specimens: For the Delta OD 450 nm, refer to Amniotic Bilirubin Scan (0080276). Whole blood is acceptable for paternal specimens.
CPT Code(s): 83891 Isolation; 83898 x3 Amplification; 83896 x6 Nucleic acid probes; 83912 Interpretation and report Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
Cross References: RHD Gene (RhD Antigen (RhD) Genotyping)
 
 

 

 

 
All ARUP Sites:        www.aruplab.com     ·     www.arupconsult.com     ·     www.arup.utah.edu     ·     www.childx.org     ·     www.utahblood.org