Platelet Antigen 1 Genotyping (HPA-1)

Background Information for Platelet Antigen 1 Genotyping (HPA-1):
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 a rare "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.
Polymorphism Tested: HPA-1 (ITGB3, GPIIIa) c.176T>C, p.L59P
Clinical Sensitivity: 80 percent in Caucasians, unknown in other ethnicities.
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 https://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.