Laboratory Test Interpretation: Key Insights for Differential Diagnosis in Ambiguous Cases Using Biomarkers

The interpretation of laboratory tests is an essential skill in medical practice, especially when faced with ambiguous cases. The ability to discern between results that may appear contradictory or unclear is crucial for accurate differential diagnosis. In this context, biomarkers and clinical analysis play a fundamental role, providing data that, if interpreted correctly, can guide treatment and improve patient outcomes.

Diving Deeper into Laboratory Test Interpretation

The evolution of sequencing technologies, such as next-generation sequencing (NGS), has revolutionized the capacity of clinical laboratories to perform complex genetic tests. However, this complexity also introduces significant challenges in the interpretation of results. The reassessment of the pathogenicity of Mendelian genes in diseases such as cardiomyopathies has shown that some genetic variations previously considered significant may not be clinically informative.

In the realm of infectious diseases, such as syphilis, the interpretation of serological tests can be complicated due to the variety of clinical manifestations and the need to correlate laboratory results with the patient's clinical history. Current diagnostic methods require careful interpretation to avoid misdiagnoses and delays in treatment.

Furthermore, in the context of cancer, the integration of genomic test results into clinical care is essential for precision medicine. The interpretation of genomic tests can reveal driver mutations that are potential vulnerabilities for targeted therapies, but their interpretation requires a deep understanding of cancer biology and the limitations of the tests.

Conclusions

The interpretation of laboratory tests in ambiguous cases is a complex process that requires a combination of technical knowledge, clinical experience, and critical judgment. Collaboration between clinicians and laboratories is essential to ensure that test results are effectively utilized in differential diagnosis and patient management. As technologies advance, it is crucial for physicians to stay updated on best practices and new tools available to enhance diagnostic accuracy and patient care.

Referencias

• [1] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
• [2] Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
• [3] Advantages and limitations of current diagnostic laboratory approaches in syphilis and congenital syphilis
• [4] Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance

Created 13/1/2025