REVIEW PAPER
Genetic tests used in modern diagnosis of inborn errors of immunity and hematological diseases
1
Department of Pediatrics, Hematology, Oncology, Immunology and Transplantology, Nicolaus Copernicus University in Toruń, Collegium Medicum, Bydgoszcz, Poland
2
Department of Pediatrics, Hematology, Oncology, Immunology and Transplantology, Antoni Jurasz University Hospital No. 1 in Bydgoszcz, Poland
3
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland
4
Faculty of Medicine, Bydgoszcz University of Science and Technology, Bydgoszcz, Poland
5
The Medical University of Warsaw, Warsaw, Poland – student
6
Department of Genetic Predisposition to Cancer, Medical University of Lodz, Lodz, Poland
Submission date: 2025-09-30
Final revision date: 2025-12-14
Acceptance date: 2026-01-16
Online publication date: 2026-08-03
Corresponding author
Sylwia Kołtan
Department of Pediatrics, Hematology, Oncology, Immunology and Transplantology, Nicolaus Copernicus University in Toruń, Collegium Medicum, Bydgoszcz, Poland
Department of Pediatrics, Hematology, Oncology, Immunology and Transplantology, Nicolaus Copernicus University in Toruń, Collegium Medicum, Bydgoszcz, Poland
KEYWORDS
ABSTRACT
High-throughput genetic testing plays a key role in the diagnosis of genetically determined diseases. Its application has significantly increased the diagnostic efficiency of many rare diseases, including inborn errors of immunity (IEI) and hematological diseases. Most of these patients are managed by pediatricians, immunologists, and hematologists. These specialists are often responsible for selecting the appropriate diagnostic strategy, interpreting the results, and making subsequent therapeutic decisions. In this context, cooperation with clinical geneticists is crucial.
This review is intended for physicians of various specialties involved in the care of patients with rare genetically determined immunological and hematological diseases.
The authors’ intention was to provide an accessible presentation of genetic testing methods used in the diagnosis of IEI and congenital hematological diseases, together with guidance on selecting the most appropriate diagnostic approach. A diagnostic algorithm based on the patient’s clinical phenotype is proposed, and key principles for interpreting genetic test results are discussed.
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| eISSN: | 1644-4124 |
| ISSN: | 1426-3912 |
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