Advanced genetic testing is a basis for accurate diagnosis and customized therapy of mitochondrial diseases. Protheragen's innovative, comprehensive, and highly-tailorable genetic analysis services are specifically tailored to the stringent requirements of researchers and developers who are working on therapeutics by going beyond off-the-shelf panels to deliver the precise data you need for accurate diagnostics, exact target discovery, or model creation.
Genetic testing is central in the study of mitochondrial disorders and constitutes the keystone for disentangling their complex aetiology. Detection of pathogenic mutations in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) is critical for accurate diagnosis, genetic counselling, and making genotype-phenotype correlations. Using advanced sequencing and bioinformatics, genetic testing accurately maps the intricate genetic landscape of these highly heterogeneous diseases. This includes the identification of point mutations, deletions, duplications, and copy number variation (CNV), together with accurate quantification of levels of mtDNA heteroplasmy, which is important for disease severity and progression.
Facilitating comprehensive and definitive identification of pathogenic variations is essential for the design of diagnostics. Identification of distinct genetic profiles and genotype-phenotype correlations contributes to individual cohort grouping, critical for the design of trials and development of predictive biomarkers for the progression of disease.
Identifying the particular molecular defect induced by a given pathogenic mutation (e.g., complex I deficiency due to NDUFS8 mutation). Such detailed genetic data also provides a focus for the choice and validation of therapeutic targets, specifically in relation to gene therapy or small molecule development targeted at bypassing/correcting the underlying genetic fault.
The genetic testing is essential for the generation and quality control of experimental models. Accurately identifying the exact mutation (including specific mtDNA heteroplasmy levels) allows for the precise genetic engineering of cell-based models (such as iPSCs) or animal models, which are indispensable tools for drug screening or elucidating the mechanism of diseases.
Using our cutting-edge next-generation sequencing (NGS) technology, powerful bioinformatics infrastructure, and deep mitochondrial genetics expertise, we offer a complete solution from sample handling to comprehensive reporting. This is essential to help researchers and therapeutic developers understand true causative mutations and discover new genetic contributors to mitochondrial dysfunction so they can de-risk and more quickly advance downstream development efforts.
Core Technical Methodologies for Genetic Testing
Leveraging a robust, multi-faceted technical platform ensures comprehensive genomic interrogation with high sensitivity and specificity. By integrating complementary methodologies, we provide a complete and reliable assessment of both mitochondrial and nuclear genomes.
Comprehensive Sequencing Strategies
Specialized Detection & Validation
Protheragen's cutting-edge genetic testing solutions deliver the genetic evidence you need to advance awareness and understanding of mitochondrial disorders, transforming raw sequence data into validated insights for research and development. Through partnering with us, you gain access to a dedicated team whose aim is to help the success of your project with clear, robust, and interpretable genetic results. For project-specific designs, custom panel design, or help with your analysis, please contact our expert team to form a collaboration.
Reference
For research use only, not for clinical use.
