Review article
https://doi.org/10.26800/LV-146-supl1-19
Dilemmas in genetic diagnostics of inborn errors of metabolism and how to help yourself
Tamara Žigman
orcid.org/0000-0003-1184-8798
Danijela Petković Ramadža
Abstract
Genetic methods enable the definition of molecular basis of the inborn error of metabolism, guide us towards the optimal treatment methods and enable genetic counselling, and sometimes prenatal diagnosis, if indicated. With the introduction of new generation sequencing technology in the diagnosis of hereditary metabolic
diseases, the thinking paradigm about the diagnostic algorithm has also been shifted for some groups of diseases. Next generation sequencing methods have advantages and limitations that those who use them should understand. In the interpretation of unclear findings, some useful IT sources can help us, and are discussed in more
details in the text. An indiscriminate and irrational approach in using new genetic technologies is not acceptable and cannot replace the knowledge and time that needs to be devoted to a patient with a rare diseas.
Keywords
INBORN ERRORS OF METABOLISM; GENETIC ANALYSIS; NEXT GENERATION SEQUENCING; VARIANTS OF UNCERTAIN SIGNIFICANCE
Hrčak ID:
315833
URI
Publication date:
11.4.2024.
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