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Related Experiment Video

Updated: Jun 28, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

From educational to graded: redefining proficiency testing in ABO genotyping.

Reut Hod-Dvorai¹, Cathi Murphey², Valia Bravo-Egana³

¹Department of Pathology, SUNY Upstate Medical University, Syracuse, NY, United States.

Human Immunology

|June 26, 2026

Summary

ABO genotyping accurately predicts blood type phenotypes, showing high consistency across laboratories. Proficiency testing programs are recommended to ensure quality for clinical transplantation settings.

Keywords:

ABO blood groups ABO genotyping ASHI Organ transplantation Proficiency testing

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Area of Science:

Immunogenetics
Molecular Diagnostics
Transfusion Medicine

Background:

Serologic typing for ABO blood groups can be inconclusive or unfeasible in certain clinical scenarios.
Molecular ABO genotyping offers an alternative method for determining blood type.
The clinical utility of ABO genotyping, particularly in transplantation, requires rigorous evaluation of its accuracy and consistency.

Purpose of the Study:

To assess the accuracy and inter-laboratory consistency of ABO genotyping compared to serologic methods.
To determine the need for a graded proficiency testing (PT) program for ABO genotyping.
To evaluate the suitability of molecular ABO typing for routine clinical use in transplantation.

Main Methods:

Analysis of data from 2023-2025 ABO genotyping proficiency testing challenges involving 55 specimens.
Parallel molecular ABO genotyping of 53 PT specimens using Reverse Transcription Polymerase Chain Reaction (RT-PCR) and Next-Generation Sequencing (NGS).
Evaluation of method concordance and phenotype prediction accuracy.

Main Results:

95% of specimens achieved 100% phenotype consensus among participating laboratories.
RT-PCR and NGS methods demonstrated high concordance, with a single phenotype discrepancy observed.
Six novel O alleles were identified across nine specimens.

Conclusions:

ABO genotyping demonstrated 100% phenotype prediction accuracy in this proficiency testing study.
Proficiency testing programs are effective for monitoring the analytical performance of ABO genotyping assays.
These findings support the increasing adoption of molecular ABO typing for clinical transplantation testing.