| Interpretive Data: |
Characteristics: Spontaneous fetal intracranial bleeding in 20% of severe perinatal alloimmune thrombocytopenia (PAT) affected pregnancies; risk of fetal death. Post-transfusion purpura in transfusion recipients with antibodies to a specific platelet antigen.
Incidence: PAT occurs in 1 in 5000 births.
Inheritance: Codominant expression of a and b alleles.
Cause: Women homozygous for a rare b HPA allele with antibodies to the common a allele have a 50% risk for an affected pregnancy if her partner is heterozygous for a allele and 100% if her partner is homozygous for a allele.
Mutations tested: HPA 1, 2, 3, 4, 5, 6, 15 a (common) and b (variant) alleles.
Clinical Sensitivity: 98%
Methodology: Polymerase chain reaction (PCR) followed by melting analysis using fluorescent resonance energy transfer (FRET) probes.
Analytical Sensitivity and Specificity: 99%
Limitations: Mutations other than in HPA 1, 2, 3, 4, 5, 6, 15 will not be detected; furthermore, mutations within the primer or probe regions could affect this assay.
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.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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