Whole Exome Sequencing

Whole Exome Sequencing

Mapmygenome’s Whole exome sequencing(WES) involves the sequencing of the entire exonic regions of the DNA. Through WES, we sequence the functional regions of the human genome (2% of the whole genome, comprising about ~23,000 genes) on the Next Generation Sequencing platform with 150-180X coverage. WES covers more than 95% of the exons, which are clinically significant in ~85% of disease-causing mutations in genetic disorders and many disease-predisposing SNPs throughout the genome.

WHY EXOME SEQUENCING

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

• 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

• 3-4 ml EDTA Blood , 2-3 ug purified genomic DNA, Tissue sample such as FFPE Block

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

Features

• Fast reporting with 99.9?ta accuracy. TAT: 3-4 weeks

• Genetic counseling session.

Booking Procedure:

• Fill the booking form on the right side with Name, Address, Mobile no.

• Blood/Saliva samples will be collected from your Home address. 1 hrs fasting is required.

• You need to make the payment by cash to Genetic Testing when Technician comes to pick up the samples OR Pay online after confirmation of booking.

• Reports will be shared within 2-3 weeks on your email address mentioned while booking.

Report

Report generation with quick TAT

99?curacy

Fast Therapeutic Benefits

Easy to read & self-explanatory report

Booking Procedure:

• Fill the booking form on right side with Name, Address, Mobile no.
• Blood/Urine samples will be collected from your Home address. 10-12 hrs fasting is required.
• You need to make the payment by cash to Genetic Testing when Technician comes to pick up the samples OR Pay online after confirmation of booking.
• Reports will be couriered at your residence in 3-4 working days if hardcopy is opted. We will email the reports within 48-72 hrs on your email address mentioned while booking.

• Sample pickup at home
• Online reports within 48 hours