What is Whole Exome Sequencing (WES)?
Whole Exome Sequencing (WES) (at Jaipur Molecular Lab) analyzes the entire coding region of the genome. This advanced technique examines all coding sequences and splice junctions, identifying variations in protein-coding regions across thousands of genes. Since most disease-causing mutations occur in exons, WES proves highly effective for diagnostic purposes compared to whole genome sequencing.
When to Consider WES?
- Ambiguous Symptoms: Patients with symptom combinations that do not align with a specific diagnosis can benefit from WES.
- Quality of Life Impact: Early diagnosis aids in mitigating conditions that could severely affect well-being.
- Cost-Efficiency: WES saves time and resources compared to traditional diagnostic methods.
- Unclear Diagnosis: Physicians can rely on WES when symptoms lack a clear explanation.
- Exhausted Options: WES provides clarity when previous diagnostic methods fail to identify the root cause.
Who Should Consider the WES Test?
WES at Jaipur Molecular Lab is particularly valuable for individuals with undiagnosed conditions or diverse phenotypes, such as:
- Intellectual disabilities or developmental delays
- Cardiomyopathy, epilepsy, metabolic disorders, or immunodeficiencies
- Ataxia, neuropathy, or hearing loss
- Bone/connective tissue disorders, short stature, or complex dysmorphic features
The test detects inherited variants linked to recessive or dominant diseases, as well as de-novo variants that arise spontaneously in children.
How is the Test Conducted?
At Jaipur Molecular Lab, WES uses next-generation sequencing (NGS). Genomic DNA is extracted from blood samples, and all coding regions of genes undergo simultaneous sequencing with an MGI platform. Experts carefully align the sequence data and analyze it to detect genetic variants.
Why Choose Jaipur Molecular Lab for WES?
Jaipur Molecular Lab offers a comprehensive and efficient solution for diagnosing complex conditions:
- Extensive Coverage
The WES test achieves uniform coverage with a mean depth of >80-100X, analyzing over 98% of targeted base pairs at ≥10x. - Thorough Analysis
Experts evaluate all protein-coding regions and intron-exon boundaries of approximately 23,000 genes, including mitochondrial genes. - Accurate Variant Detection
The test identifies single nucleotide variants (SNVs) and copy number variants (CNVs) with sensitivity levels ranging from 75-99%, based on zygosity and length. - Rigorous Quality Control
Each step follows stringent quality standards, ensuring accurate and reliable outcomes. - Expert Review
A Clinical Geneticist evaluates every report to ensure its accuracy and relevance to patient care. - CAP-Approved Laboratory
Jaipur Molecular Lab operates within a College of American Pathologists (CAP) accredited facility, adhering to international diagnostic standards. - Free Genetic Counseling
Pre- and post-test genetic counseling sessions guide patients and their families through the testing process and results.
Choose WES at Jaipur Molecular Lab
WES at Jaipur Molecular Lab offers a reliable pathway to accurate diagnosis. With cutting-edge technology, detailed variant analysis, and expert clinical support, JML ensures clarity, precision, and confidence in your genetic health journey.