Inherited Genetic Disease

Scientia Link delivers comprehensive solutions for inherited genetic disease research, diagnosis and translational applications. Our capabilities encompass the full spectrum of genetic analytics—from discovery through clinical validation:

• Comprehensive gene panels for monogenic disorders, spanning neurology, cardiology, metabolic, hematology and rare syndromes

• Whole-exome and whole-genome sequencing of patients, families and cohorts, enabling novel gene discovery and diagnosis of undiagnosed conditions

• Variant interpretation workflows (SNV, indel, CNV, structural variants) with annotation, classification and reporting for clinical and research labs

• Prenatal and pre-implantation genetic screening (PGT-M, PGT-A) plus carrier-screening solutions

• Functional genomics support (RNA-seq, methylation profiling, pathway analysis) to elucidate mechanisms of inherited disease and validate biomarkers

• Clinical-research collaboration programs enabling translational pipelines from bench to bedside in the MENA region