DiGeorge Syndrome Case Study: How MedGenome's KaryoSeq Delivers Faster, Accurate Diagnoses скачать в хорошем качестве

DiGeorge Syndrome Case Study: How MedGenome's KaryoSeq Delivers Faster, Accurate Diagnoses

Explore how MedGenome’s KaryoSeq supports accurate and timely diagnosis of rare genetic conditions through this case study on DiGeorge Syndrome. This video presents the clinical journey of a 10-year-old boy with symptoms including hypocalcaemia, dysmorphic facial features, intellectual disability, and cardiac anomalies. Using KaryoSeq’s low-pass whole genome sequencing (WGS) method, clinicians identified a 22q11.2 deletion, confirming the diagnosis of DiGeorge Syndrome. Conventional genetic testing approaches may take longer and can sometimes miss certain variants. KaryoSeq provides genome-wide analysis for copy number variants (CNVs) using a cost-effective and efficient workflow, supporting better diagnostic decisions. The video also discusses the role of genetic counselling in connecting genetic data with individual and family health management. For DiGeorge Syndrome, where approximately 10–15% of cases are inherited, early identification and counselling can aid in risk assessment and informed healthcare planning. This case highlights the practical use of genomic technologies in clinical diagnosis, emphasising collaboration between laboratory science and clinical care. To know more, Visit [email protected] Or Call 1800 296 9696 #MedGenome #KaryoSeq #DiGeorgeSyndrome #CaseStudy #GeneticTesting #GeneticScreening #GenomicMedicine #RareDisease #WholeGenomeSequencing #CNVAnalysis #ClinicalGenomics #GeneticCounselling #HealthcareInnovation #PrecisionMedicine #Genomics #HealthTech #MedicalAdvancements #EarlyDetection #Multiomics #PatientCare #MedicalResearch #MedGenomeLabs #MedicalDiagnostics #GenomicsIndia