Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot

Clinical Exome Sequencing (CES) 80–100X – Min 4 GB Data – Raw Data Only

Overview

Clinical Exome Sequencing (CES) is an advanced genetic test designed to analyze the protein-coding regions (exons) of thousands of genes associated with inherited disorders and genetic conditions. This test generates high-depth sequencing data with coverage of approximately 80–100X, ensuring accurate and reliable variant detection.

This package provides raw sequencing data only with a minimum of 4 GB data output, suitable for research analysis, secondary bioinformatics interpretation, and archival purposes.

What Does This Test Analyze?

• Protein-coding regions (exons) of clinically relevant genes
• Genetic variants associated with:
  • Rare genetic disorders
  • Neurological conditions
  • Metabolic diseases
  • Developmental disorders
  • Hereditary syndromes
  • Pediatric genetic conditions

Key Features

• High-depth sequencing coverage: 80–100X
• Minimum 4 GB raw sequencing data
• Raw FASTQ/BCL data delivery
• High-quality next-generation sequencing (NGS) platform
• Suitable for advanced bioinformatics analysis
• Comprehensive exon-level assessment

Sample Requirements

• Peripheral blood sample (EDTA)
• DNA extracted sample (if applicable)

Recommended For

• Patients with suspected inherited genetic disorders
• Individuals requiring comprehensive exome-level genetic evaluation
• Research and secondary genomic analysis
• Cases needing raw sequencing files for custom interpretation

Technology Used

• Next-Generation Sequencing (NGS)
• Clinical Exome Capture Technology
• High-throughput sequencing platform

Turnaround Time

Typically 3–6 weeks from sample receipt.

Deliverables

• Raw sequencing data files only
  • FASTQ files
  • Minimum 4 GB data output
• No clinical interpretation/report included

Important Notes

• This package includes raw data only and does not include:
  • Variant interpretation
  • Clinical correlation
  • Genetic counseling
  • Final diagnostic report
• Additional bioinformatics analysis may be required for interpretation.

Benefits of Clinical Exome Sequencing

• Broad genetic coverage
• High sensitivity for clinically significant variants
• Useful in complex or undiagnosed conditions