Assess risk for fetal and neonatal alloimmune thrombocytopenia. May be ordered for parental, fetal, or neonatal genotyping.
Polymerase Chain Reaction/Fluorescence Monitoring
Fetal Genotyping: Amniotic fluid OR 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 Note): Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Parental Genotyping: Lavender (EDTA).
Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)
Cultured Amniocytes: Transport two T-25 flasks at 80 percent confluency 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)
Whole Blood (Parental Genotyping): Transport 3 mL whole blood. (Min: 1 mL)
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.
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Whole Blood or Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background Information for Platelet Antigen Genotyping Panel:
Characteristics: Spontaneous fetal intracranial bleeding may occur in 20 percent of pregnancies affected with severe perinatal alloimmune thrombocytopenia (PAT); there is a risk of fetal death. Post-transfusion purpura may occur in transfusion recipients with antibodies to a specific platelet antigen.
Incidence: PAT occurs in 1 in 5000 births.
Inheritance: For women homozygous for the less common "b" HPA allele with antibodies to the common "a" allele, there is a 50 percent risk a pregnancy will be affected if her partner is heterozygous for the "a" allele and 100 percent risk if her partner is homozygous for the "a" allele.
Cause: Maternal-fetal HPA incompatibility.
Polymorphisms Tested: HPA-1 (ITGB3, GPIIIa) c.176T>C, p.L59P; HPA-2 (GP1BA, GPIba) c.482C>T, p.T161M; HPA-3 (ITGA2B, GPIIb) c.2621T>G, p.I874S; HPA-4 (ITGB3, GPIIIa) c.506G>A, p.R169Q; HPA-5 (ITGA2, GPIa) c.1600G>A, p.E534K; HPA-6 (ITGB3, GPIIIa) c.1544G>A, p.R515Q; HPA-15 (CD109, CD109) c.2108C>A, p.S703Y
Clinical Sensitivity: Variable, dependent on ethnicity.
Methodology: PCR 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. Diagnostic errors can occur due to rare sequence variations.
Informed consent: Recommended; forms are available at www.aruplab.com.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|PA 1-6, 15 Polymorphism|
|HPA System||"a" Allele Common||"b" Allele Variant|
Laboratory Developed Test (LDT)
Maternal specimen is recommended for proper test interpretation if contamination of the fetal specimen from the mother is suspected. Order Maternal Cell Contamination.
81105; 81106; 81107; 81108; 81109; 81110; 81112
|Component Test Code*||Component Chart Name||LOINC|
|3001171||Platelet Antigen Geno Interpretation|
|3001173||Platelet Antigen 1 Genotyping|
|3001174||Platelet Antigen 2 Genotyping|
|3001175||Platelet Antigen 3 Genotyping|
|3001176||Platelet Antigen 4 Genotyping|
|3001177||Platelet Antigen 5 Genotyping|
|3001178||Platelet Antigen 6 Genotyping|
|3001179||Platelet Antigen 15 Genotyping|
|3001180||Platelet Antigen Geno Specimen|
- HPA platelet antigen genotyping panel