Molbio Diagnostics Invests $30 Million in OptraSCAN to Revolutionize Digital Pathology

BioNTech Acquires Chinese Oncology Firm Biotheus for $950M

The Care and Protection of Children Trust

CPCT Launches Groundbreaking Initiative to Provide Lifelong Free Treatment for Children with Spinal Muscular Atrophy (SMA) in Karnataka

Early Comprehensive Genomic Profiling Improves Cancer Treatment Outcomes, Study Shows

EMA Reverses Decision, Recommends Limited Approval for Eisai and Biogen’s Alzheimer’s Drug Leqembi

Exact Sciences Unveils Advances in Multi-Cancer Early Detection with Cancerguard™ Test

MSD and LaNova Medicines Enter Exclusive Global License Agreement for Novel Cancer Therapy, LM-299

Promising CAR T Cell Therapies from BMS and Cabaletta Bio Show Potential for Durable Remission in Severe Lupus

FDA Grants Accelerated Approval to PTC Therapeutics' KEBILIDI™, the First Gene Therapy for AADC Deficiency in the U.S.

Association for Molecular Pathology Publishes Joint Consensus Report on SARS-CoV-2 Genomic Surveillance for Hospitals and Public Health Laboratories

Philips India Unveils Advanced Azurion Imaging System to Revolutionize Cardiac and Neurovascular Care

Tempus AI Study Highlights Benefits of Dual RNA and DNA Sequencing for Advanced Lung Cancer

Ontada and Datavant Partner to Expand Access to Real-World Oncology Data for Accelerated Cancer Innovation

Tempus AI and Flatiron Health Partner to Integrate Genomic Testing into OncoEMR for Enhanced Oncology Care

Flare Therapeutics and Roche Forge Strategic Partnership to Discover Precision Oncology Therapies Targeting Transcription Factors

Home
/
insight
/
details

Decoding Epilepsy: The Role of Genetic Testing in Diagnosis and Understanding

NextEdge Admin

21 Apr 2024

3 min 17 sec

Epilepsy, a neurological disorder characterized by recurrent seizures, results from a complex interplay of genetic and environmental factors. Genetic testing is a crucial diagnostic tool, especially in cases of early-onset epilepsy or with a notable familial history. The multifaceted benefits of genetic testing extend to individuals, families, and healthcare providers.

Karyotyping, a traditional cytogenetic technique, examines an individual’s chromosomes, revealing large-scale genetic abnormalities. This foundational test, known for identifying conditions like Down syndrome, unveils the intricate landscape of chromosomes, including size, shape, and number. It plays a pivotal role in identifying aneuploidy and structural changes, offering valuable insights into chromosomal abnormalities.

Microarray analysis, a more advanced molecular technique, detects submicroscopic chromosomal imbalances such as duplications or deletions. This high-resolution method provides a detailed and comprehensive view of an individual’s genomic landscape, particularly suited for identifying smaller genetic variations associated with epilepsy. Chromosomal microarrays, adept at identifying copy number variants (CNVs), are essential in epilepsy diagnostics, with around 10% of individuals showing abnormal results, and a higher prevalence in children with additional conditions like autism or intellectual disability.

Next-Generation Sequencing (NGS) is employed through epilepsy gene panels, scrutinizing multiple genes associated with the disorder simultaneously. These panels yield a diagnosis in approximately 20% of cases, with factors like age of onset and family history impacting diagnostic success. Targeted genetic testing focuses on predetermined genes, while panel testing broadens the scope by analyzing a wider set of genes linked to epilepsy. Whole exome sequencing (WES) and whole genome sequencing (WGS) provide a more comprehensive understanding by delving into the entirety of an individual’s genetic code.

The information derived from genetic testing guides epilepsy management, influencing treatment decisions, and offering prognostic insights. Understanding the genetic underpinnings is pivotal for family planning, allowing individuals to make informed decisions about passing on genetic factors. Genetic testing for epilepsy stands as a transformative tool, contributing to accurate diagnoses, informed treatment strategies, and enhanced family planning decisions, ultimately improving the overall management of this complex neurological disorder.