Medical Genomics
Clinical-grade genomic services spanning whole exomes, prenatal testing, inherited risk panels, and oncology.
Introduction
Yaazh Xenomics delivers high-precision medical genomics services using advanced Next-Generation Sequencing (NGS) platforms and expert bioinformatics. Our clinical-grade offerings support clinicians, hospitals, genetic counselors, and researchers across India with accurate variant detection, ACMG/AMP-compliant reporting, and actionable insights for personalized medicine.
We specialize in Human Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), Clinical Exome Sequencing, Trio/Family-Based Analysis, Cancer Genomics & Oncology NGS Panels, Pharmacogenomics (PGx) Testing & Reporting, and Rare Disease & Hereditary Disorders Diagnostics.
All services are performed in our ISO-certified laboratory (Coimbatore headquarters with Madurai and other branches) with nationwide sample logistics.
End-to-End Medical Genomics Workflow
1. Consultation & Test Selection — Phenotype review and test recommendation.
2. Sample Collection & QC — DNA extraction and quality assessment.
3. Library Preparation & Enrichment — Exome capture or WGS library prep.
4. High-Throughput Sequencing — Target coverage achieved on chosen platform.
5. Bioinformatics & Interpretation — Automated calling + expert ACMG curation.
6. Clinical Report Generation — Actionable report with recommendations.
7. Post-Report Support — Genetic counseling, reanalysis, and raw data access.
7. Clinical Reporting & ACMG/AMP Guidelines
Variant Classification Tiers
All medical genomics reports follow ACMG/AMP 2015 Standards and Guidelines (with recent updates) for germline variant interpretation.
Report Deliverables
- Executive summary with primary findings
- Detailed variant table with classification + evidence codes
- Gene-level clinical significance and disease association
- Recommendations for confirmation and family testing
- IGV screenshots for key variants
- Raw data: FASTQ + BAM + VCF
Key Testing Categories
1. Human Whole Genome Sequencing (WGS)
Mean coverage: ≥30× (standard clinical), up to 60–100× on request. Detection of SNVs, small indels, CNVs, SVs, repeat expansions, and mitochondrial variants. Long-read Nanopore option for complex SVs. Applications: Rare diseases, precision oncology, PGx expansion.
2. Whole Exome & Clinical Exome Sequencing
WES targets the ~1–2% protein-coding regions (~20,000 genes). Clinical Exome focuses on phenotype-driven gene lists with higher depth (Average 100×). Advantages: Lower cost, faster turnaround, higher depth on coding regions.
3. Trio / Family-Based Exome Analysis
Sequencing proband + both parents increases diagnostic yield for de novo variants. Benefits: Reduces VUS rate, direct identification of inherited vs de novo variants. Recommended for pediatric neurology and developmental delay.
4. Cancer Genomics & Oncology NGS Panels
Germline Panels: HBOC, Lynch Syndrome, Pan-Cancer risk. Somatic/Tumor Profiling: Tumor-normal paired sequencing for actionable mutations, CNAs, and TMB. Reports include ACMG/AMP classification and therapy implications.
5. Pharmacogenomics (PGx) Testing & Reporting
Aligned with CPIC guidelines. Common Genes: CYP2C19, CYP2D6, CYP3A5, SLCO1B1, TPMT, DPYD, etc. Report Includes: Star allele genotype, phenotype prediction, and CPIC-based drug dosing recommendations.
6. Rare Disease & Hereditary Diagnostics
High-depth exome/genome combined with expert curation for neuromuscular disorders, intellectual disability, and congenital anomalies. Yield Enhancers: Trio analysis, reanalysis, HPO term integration.
Explore Specific Medical Genomic Services
Click on any of our dedicated testing areas to learn more.
Exome Sequencing
Whole-exome sequencing captures the protein-coding regions where most known disease-causing variants occur — a cost-effective route to clinically relevant variant discovery.
NIPT — Non-Invasive Prenatal Testing
Safe, non-invasive prenatal screening from maternal blood, analysing cell-free fetal DNA for common trisomies (21, 18, 13) and sex-chromosome aneuploidies.
Gut Microbiome Test
Comprehensive profiling of the gut microbial community using 16S or shotgun metagenomics — revealing composition, diversity and functional potential.
Human Whole Genome Sequencing
Clinical-grade whole-genome sequencing of the entire human genome — coding and non-coding — for the most comprehensive view of germline variation.
Personal Genomics
Personal genomic insights spanning ancestry, inherited traits, carrier status and wellness — delivered with clear, privacy-first reporting.
Cardio Genomics
Targeted gene panels for inherited cardiovascular conditions — cardiomyopathies, arrhythmias and familial hypercholesterolaemia.
| Service | Best For | Key Strength | Typical Turnaround |
|---|---|---|---|
| Human Whole Genome Sequencing (WGS) | Complex/undiagnosed cases, structural variants, non-coding regions | Most comprehensive | 4–8 weeks |
| Whole Exome Sequencing (WES) | Broad coding variant discovery | High-depth coding regions | 3–6 weeks |
| Clinical Exome Sequencing | Known disease gene panels + phenotype-driven analysis | Focused, high diagnostic yield | 3–5 weeks |
| Trio / Family-Based Exome Analysis | Rare pediatric/neurological disorders | De novo variant detection | 4–6 weeks |
| Cancer Genomics & Hereditary Oncology Panels | HBOC, Lynch, pan-cancer risk | Germline + somatic insights | 2–5 weeks |
| Pharmacogenomics (PGx) Testing & Reporting | Drug response optimization | CPIC-aligned star allele & phenotype reporting | 7–21 days |
| Rare Disease & Hereditary Diagnostics | Undiagnosed genetic conditions | Exome/WGS + trio + expert curation | 4–8 weeks |
Sample Types, Preparation & Shipping Guide
| Sample Type | Preferred Volume / Amount | Quality Requirements | Notes |
|---|---|---|---|
| Whole Blood (EDTA) | 2–5 ml | Preferred for germline | Room temp or 4°C; ship within 48–72 hrs |
| Saliva / Buccal Swab | 2 ml saliva or 1–2 swabs | Good alternative | Use stabilization tubes (e.g., DNA/RNA Shield) |
| FFPE Tissue | 5–10 unstained slides or block | For somatic/tumor | Special extraction; lower DNA quality acceptable |
| Extracted gDNA | 200–1000 ng (min 100 ng) | DIN score ≥7, A260/280 1.7–2.0 | High-quality preferred |
| Cell Lines / Cultured Cells | As per lab protocol | — | Coordinate in advance |
Technology Platforms & Bioinformatics
- • Sequencing: Illumina NovaSeq 6000 / NextSeq, Oxford Nanopore, MGI platforms.
- • Bioinformatics Pipeline: End-to-end QC, variant calling (GATK / DeepVariant), CNV/SV calling.
- • Databases: ClinVar, gnomAD, OMIM, HGMD, COSMIC, CPIC.
- • AI Augmentation: DeepVariant, AlphaMissense, custom models.
- • Secondary Analysis: Available on request (RNA-Seq integration, reanalysis).
Why Choose Yaazh Xenomics for Medical Genomics?
Quality Control: ISO-certified processes with rigorous quality control.
Nationwide Support: Fast turnaround and nationwide sample support (Madurai & Coimbatore strength).
Expert Reporting: Strong focus on both research and clinical (ACMG-compliant) reporting.
Flexible Options: Proband-only, Duo, Trio, and reanalysis available.