Rijad Konjhodžić*

Univerziteta u Sarajevu-Fakultet zdravstvenih studija

*Dopisni autor: Rijad Konjhodžić, Univerziteta u Sarajevu-Fakultet zdravstvenih studija, Sarajevo Bosna i Hercegovina, email:rijad.konjhodzic@fzs.unsa.ba

DOI: https://doi.org/10.17532/dzn.2023.013

Abstract

Background: Rare diseases affect 5,9 percent of the population,  and pose an unique challenges for patients, families, and healthcare providers due to their conflicting etiology. Diagnosis of the rare disease can be challenging, as the symptoms may be similar to more common illnesses, and there could be a lack of awareness among medical professionals. As a result, patients may experience delayed or incorrect diagnoses, leading to delayed treatment and more adverse consequences. Furthermore, it is imperative to be able to isolate and follow up the designated mutation in family tree.

Materials and Methods: DNA extraction was performed on blood and amniotic fluid samples, followed by DNA quantification, and library preparation using TruSight One sequencing panel from Illumina. Sequencing was performed on the MiSeq Illumina platform and comprehensive bioinformatic data analysis using Varsome clinical software. Based on the detected variants, in-house primers for Sanger sequencing were designed for confirmation and availability of familial testing.

Results: Since it is a comprehensive approach to rare disease diagnostics, the findings will be presented in the form of patient case reports, categorizing variants as pathogenic, likely pathogenic, and variants of uncertain significance, which are associated with rare genetic disorders.

Conclusion: Overall, the ability to perform molecular diagnostics of rare diseases is essential for improving patient care, and addressing public health challenges associated with rare diseases. Clinical exome testing on amniotic fluid is a powerful tool for early diagnostics of rare genetic diseases in a developing fetus, providing parents with valuable information to prepare for potential medical or developmental needs. Capability of the laboratory to design specific primers and follow up detected mutations relatively quickly and inexpensively broadens the influence of Clinical Exome sequencing.