What is Medical Genomics Testing?

Medical genomics uses Next-Generation Sequencing (NGS) to analyze an individual's DNA for disease-causing variants, predispositions, and drug responses. Key types include:

• Whole Exome Sequencing (WES) – Targets ~1–2% protein-coding regions (exons) where most disease variants occur; ideal for rare/undiagnosed genetic conditions.
• Clinical Exome Sequencing – Focused on clinically relevant genes for faster, cost-effective diagnosis in known hereditary disorders.
• Blended Genome Sequencing – Combines exome + targeted regions for complex cases.
• Targeted Panels – Cancer, pharmacogenomics, cardiology, neurology, carrier screening.

These tests enable personalized medicine: early detection, tailored therapies, reduced adverse drug reactions, and improved outcomes.

Our Medical Genomics Services & Panels

Cancer Genomics & Hereditary Cancer Panels

• BRCA1/BRCA2 & multi-gene panels for breast, ovarian, colorectal, prostate cancers
• Tumor profiling (somatic variants) for therapy selection (targeted drugs, immunotherapy)
• Hereditary cancer risk assessment & preventive screening

Pharmacogenomics (PGx) Testing

• Drug response prediction for antidepressants, anticoagulants, anesthetics, oncology drugs
• Avoid trial-and-error prescribing; minimize side effects & optimize dosing

Rare & Inherited Disease Testing

• Whole/clinical exome for undiagnosed conditions, pediatric/neuromuscular disorders
• Trio analysis (proband + parents) for de novo variants
• Carrier screening for reproductive planning

Other Specialized Testing

• Targeted gene panels (e.g., cardiology, neurology, endocrinology)
• Blended exome + genome approaches for complex cases

End-to-End Workflow for Medical Genomics at Yaazh Xenomics

1. Sample Collection & QC – Blood, saliva, tissue/FFPE; high-quality gDNA extraction
2. Library Prep & Enrichment – Hybrid capture for exome/panels
3. NGS Sequencing – High-depth on NovaSeq/Nanopore/Thermo platforms
4. Bioinformatics & Interpretation (Free basic + custom options):
   • Alignment, variant calling (SNPs/InDels/CNVs)
   • Annotation (ClinVar, OMIM, gnomAD, COSMIC)
   • ACMG/AMP classification for pathogenicity
   • Clinical reports with prioritized variants & recommendations
5. Deliverables: FASTQ/BAM/VCF, annotated reports, IGV visuals, optional Sanger confirmation

Why Choose Yaazh Xenomics for Medical Genomics in India?

• Affordable & competitive pricing – high value with no quality compromise
• Rapid turnaround for clinical urgency
• High-accuracy results with strict QC & controls
• Expert genetic counseling support & variant interpretation
• Coimbatore-based lab with nationwide shipping & pickup
• ISO-certified processes & advanced platforms
• Publication/clinical-grade reports

Applications & Benefits

• Rare disease diagnosis (higher yield in undiagnosed cases)
• Oncology: Match patients to targeted therapies
• Pharmacogenomics: Safer, more effective medications
• Preventive health: Carrier screening & risk assessment
• Personalized medicine: Better outcomes, reduced healthcare costs

Pros & Cons of Medical Genomics Testing

Advantages

• Precision diagnostics for complex/rare conditions
• Actionable insights for treatment & prevention
• Cost-effective vs. whole genome for coding variants

Limitations

• May miss non-coding variants (consider WGS if needed)
• Variant interpretation can be complex (we provide expert review)
• Not all variants have clear clinical significance

For broader analysis, explore our Whole Genome Sequencing or Exome Sequencing pages.