What is Whole Exome Sequencing?

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.

MAPMYGENOME - OFFERINGS

Extensive coverage of all genes in the human genome ~23000 genes & mitochondrial genes with 150-180X coverage

Comprehensive detection of & analysis of both CNV’s & SNV’s. Raw data is analyzed using a comprehensive bioinformatics pipeline.

Pathogenic, Likely Pathogenic, VuS are reported as per the ACMG & ClinVar guidelines

Covers more than 98% of targeted exons, with a Sensitivity of 95.9% & Specificity of 98.7%

Genetic counselling - to guide through the report and discuss the availability management/treatment options in case of clinical findings

Primary findings are reported according to the clinical phenotype. Incidental findings and carrier findings are reported as per ACMG and ACOG recommendations.

TEST SAMPLE REQUIREMENTS

CVS Sample/Amniotic Fluid/Cultured Cells - Cell Pellet in 1.5mL tube

Extracted DNA samples (1µg - 2µg)

3-4ml EDTA Blood

FFPE (Formalin-Fixed Paraffin-Embedded) Sample - Somatic cases