The Molecular Genetics Laboratory at the Princess Al-Jawhara Al-Ibrahim Center for Molecular Medicine, Genetics, and Genetic Diseases at Arabian Gulf University has launched comprehensive genomic testing as a medical service that represents one of the latest diagnostic solutions in the field of genetic medicine, which provides a comprehensive and accurate analysis of genetic material in a single test, which helps accelerate the process of reaching an accurate diagnosis and improves the quality of healthcare.

Dr. Amani Aweidah, Director of the Princess Al-Jawhara Al-Ibrahim Center for Molecular Medicine, Genetics, and Genetic Diseases, stated that this test is one of the most advanced technologies; as it combines whole-exome sequencing of DNA, whole-genome mitochondrial DNA analysis, along with the detection of copy number variations (CNVs) and large genomic alterations, giving doctors a broader and deeper understanding of the patient’s genetic status compared to conventional tests.

She explained that the test is intended for patients with unexplained growth delays or intellectual disabilities, or those with congenital anomalies, as well as cases suspected of having genetic disorders or rare diseases, and complex clinical cases that have not been accurately diagnosed through conventional testing.

She noted that the test offers flexible options, including Solo testing, Duo testing (with one parent), and Trio testing (with both parents); which enhances the accuracy of the analysis and supports better interpretation of the results. It also helps detect pathogenic genetic variants or those potentially associated with the condition, as well as variants of uncertain significance and clinically significant secondary findings.

She explained that the test helps reduce the need for multiple genetic tests and provides clear, clinically applicable results that meet the highest quality standards, while ensuring confidentiality and adherence to ethical standards. She noted that, despite its advancements, it may not detect all genetic variations, and some cases may require additional techniques; furthermore, some low-frequency mitochondrial variations may not be detected.

For his part, Prof. Dr. Mohammed Maddin, Dean of the College of Medicine and Health Sciences at Arabian Gulf University, explained that the introduction of this technology underscores the importance of collaboration between academic institutions and healthcare centers, and contributes to supporting scientific research, medical education, and the development of national capabilities, in line with the latest advancements in the fields of genetic diagnosis and precision medicine.

In this context, Princess Al-Jawhara Al-Ibrahim Center reaffirms its ongoing commitment to providing the latest diagnostic technologies, supported by specialized medical expertise, thereby contributing to improving the diagnostic and treatment pathway in the region.