Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot/POC
Clinical Exome Sequencing (CES) + Mitochondrial Genome Sequencing_ONCO With MCC
Test Overview
Clinical Exome Sequencing (CES) combined with Mitochondrial Genome Sequencing is an advanced genomic diagnostic test designed to identify disease-causing genetic variants associated with hereditary cancers, rare genetic disorders, and mitochondrial abnormalities. This comprehensive analysis evaluates thousands of clinically relevant genes along with the complete mitochondrial genome for accurate molecular diagnosis.
Why This Test is Recommended
- Detects inherited genetic mutations linked to cancer predisposition
- Identifies rare and complex genetic disorders
- Evaluates mitochondrial DNA variations
- Supports precision medicine and targeted therapy decisions
- Helps in family risk assessment and genetic counseling
- Useful for unexplained syndromic or multisystem disorders
What is Included
- Clinical Exome Sequencing (coding regions of clinically relevant genes)
- Complete Mitochondrial Genome Sequencing
- MCC (Maternal Cell Contamination) analysis
- Bioinformatics interpretation
- Variant classification based on international guidelines
- Detailed genomic report
Sample Required
- Peripheral Blood / EDTA Blood
Methodology
- Next Generation Sequencing (NGS)
- Advanced Bioinformatics Analysis
Recommended For
- Suspected hereditary cancer syndromes
- Rare genetic and metabolic disorders
- Neuromuscular and mitochondrial diseases
- Developmental delay or unexplained clinical symptoms
- Family history of genetic disorders
Turnaround Time
- Approximately 4–6 Weeks
Benefits
- Comprehensive genomic evaluation
- High diagnostic accuracy
- Early disease identification
- Enables personalized treatment planning
- Supports reproductive and family planning decisions
Preparation
No special preparation is required unless advised by the physician.
Disclaimer
Test results should be interpreted by qualified healthcare professionals along with clinical history and other laboratory findings.
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