Whole Exome Sequencing

Service Description

Mapmygenome now offers Exome Sequencing for genetic diagnosis and clinical interpretation. With high-precision reporting, detailed analysis and easy-to-read reports, this service empowers you to make the right decisions for diagnosis and/or treatment. Whole Exome Sequencing (WES) is a technique for sequencing the exonic regions on the DNA. Exome comprises about 1-2% of the whole GENOME, CODES FOR ~23,000 GENES IN HUMANS. Being the protein coding region, ~85% OF disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs are clinically associated with the exomes, sequencing the entire exome can provide detailed insights on the genetic variations. CLINICAL UTILITY -To Diagnose the disease -causing variants associated with the suspected cases. -Differentiation between de novo(new unexplained mutations) and familial history of disorders. -To influence the management of the conditions/disorders in a better way including lifestyle interventions. WHEN IS WES RECOMMENDED? -Molecular Diagnosis - identify the variations in the exon regions, variants of a disease or disease-causing mutations associated in suspected cases. -Undiagnosed Conditions - In cases where no diagnosis has been made, but clinical presentation is suggestive of a genetic condition. -Detect disease-causing heterozygous variants in genes associated with autosomal dominant conditions, homozygous/compound heterozygous variants in genes associated with autosomal recessive conditions. -Test for single-gene and multigene conditions. Ideal for targeted management of complex syndromes. - neurodevelopmental disorders, intellectual disability, global developmental delay, autism spectrum disorder. -To end the Diagnostic Odyssey. -Provide accurate recurrence risks for family members & prognosis. Sample Type: Blood in EDTA TAT: 4-6 weeks