ARUP's Laboratory Test Directory

0051308: Platelet Antigen Genotyping Panel

[ image for: Patient History for Fetal Molecular Testing]
Patient History for Fetal Molecular Testing
  

Test Mnemonic: HPA PAN
Methodology: Polymerase Chain Reaction/Fluorescence Monitoring

Performed: Mon, Thu

Reported: 2-7 days

Specimen Required:  
Collect: One 5 mL lavender (EDTA) or pink (K2EDTA).  Also acceptable: yellow (ACD solution A), lt. blue (sodium citrate), or green (sodium or lithium heparin).  10 mL amniotic fluid or two T-25 flasks of 80% confluent amniocytes.  Backup cultures must be retained at the client's institution until testing is complete. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.

Transport: 5 mL whole blood, amniotic fluid, or amniocytes at 20-25°C. (Min: 1 mL)

Remarks: Do not freeze.

Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval:
 
Test Number Components Reference Interval
0051309Platelet Antigen 1 Genotyping (HPA-1) By report
0051310Platelet Antigen 2 Genotyping (HPA-2) By report
0051311Platelet Antigen 3 Genotyping (HPA-3) By report
 Platelet Antigen 4 Genotyping (HPA-4) By report
0051312Platelet Antigen 5 Genotyping (HPA-5) By report
0051313Platelet Antigen 6 Genotyping (HPA-6) By report
0051314Platelet Antigen 15 Genotyping (HPA-15) By report

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.



CPT Code(s):
83890 Isolation; 83898 x7 Amplification; 83896 x14 Nucleic acid probes; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.

 

 

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