WES analyzes the entire coding region and splice junctions of the genome to detect variations in any gene. Since most disease-causing mutations occur in exons, WES is more effective than whole genome sequencing.
Clinical Whole Exome Sequencing
- → ExomePrime Clinical Interpretation Service
- → ExomePrime Target Capture Kit
- → ExomePrime Analysis Suite
Consider WES When
Ideal for patients with complex symptoms lacking a clear diagnosis
Crucial when delayed diagnosis may affect quality of life
Supports cases where clinicians find no plausible diagnosis
Essential when no other technique can confirm the diagnosis of the condition
For patients with unexplained genetic conditions despite multiple tests
To identify inherited (recessive/dominant) and de novo genetic variants
Why Meril's WES
High coverage
>80-100X depth,
>99% base pairs at
≥30X
Covers-26000 genes (Including Ad, AR, X- Linked), including intron-exon boundaries and mitochondrial genes.
Detects SNVs with comprehensive analysis
Strict quality control ensures accuracy and reliability.
WES is ideal for
Hereditary Cancer
Cervixuteri
Stomach
Thyroid
Liver
Oesophagus
Stomach
Colorectum
Breast
Lung
Prostate
Couple Carrier
Male - Female Infertility
Autosomal Recessive & X linked genes(ACMG)
HBB and CFTR Genes
418 Inherited disorders
ACMG Secondary findings
Comprehensive Carrier Screening Panel 2271 Gene
Panethnic genes
Have any questions?
We are here to answer