Clinical Genomics Division

Pharmacogenomics (PGx) Analysis

Bridging the gap between genetics and pharmacology. We deliver high-precision drug response profiling, accurately resolving complex *CYP450* haplotypes to power the future of personalized medicine.

Analytical Scope

1. Star Allele (*Allele) Haplotyping

Translating raw genomic variants into highly standardized pharmacogene haplotypes.

Comprehensive profiling of the Cytochrome P450 family (CYP2D6, CYP2C19, CYP3A4, etc.).
Accurate identification of DPYD, TPMT, and SLCO1B1 variations.

2. Complex Loci & Pseudogene Resolution

Overcoming the limitations of short-read NGS. We specialize in resolving highly homologous regions like the CYP2D6/CYP2D7 locus, accurately detecting hybrid genes and structural copy number variants (CNVs) that dictate ultra-rapid or poor metabolizer phenotypes.

3. HLA Typing for Drug Hypersensitivity

High-resolution (4-field) HLA typing from NGS data to predict severe cutaneous adverse reactions (SCARs) to drugs like Abacavir and Carbamazepine.

Clinical Reporting Standards

CPIC Guidelines: All variant interpretations and dosing recommendations are strictly aligned with the latest Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines.
PharmGKB Integration: Results are contextualized against the Pharmacogenomics Knowledgebase to highlight gene-drug pairs with the highest clinical evidence (Level 1A/1B).
Actionable Phenotyping: Clear classification of patients into Poor, Intermediate, Normal, or Ultra-Rapid metabolizers.

Instrument Compatibility

Targeted Microarrays

Illumina Global Screening Array (GSA), Thermo Fisher PharmacoScan. Highly cost-effective for large population-scale PGx screening.

NGS Panels & Long-Read

Illumina NovaSeq/NextSeq for targeted AmpliSeq PGx panels. PacBio Revio and Oxford Nanopore are highly recommended for fully resolving the CYP2D6 locus via long-read amplicon sequencing.

AI Pipeline & Data Quality

• Data Requirements: Targeted Panels >500x depth. Arrays require standard raw CEL/IDAT files. NGS Q30 > 90%.
• AI-Assisted Haplotyping: We utilize advanced computational tools to phase variants and predict novel star alleles that deviate from standard reference libraries.
• Pharmacogenomics Clinical Annotation Tool (PharmCAT): Automated, AI-driven extraction of CPIC recommendations directly from VCF files.

Tools: Aldy, Stargazer, DeepVariant, PharmCAT, HLA-LA, xHLA.

Service Tiers & Deliverables

Microarray / Standard PGx

PharmacoScan or Array-based Data

$150 - $250

TAT: 10 - 14 Days

Deliverables: Genotype calling, Star Allele assignments, Metabolizer Phenotype reports, and standard CPIC drug-gene pair actionable recommendations.

Comprehensive NGS / TGS PGx

Deep Target Capture + Long Read Integration

₹5500 - ₹8500+

TAT: 4 - 6 Days

Deliverables: Full BAM/VCF generation, complex Structural Variant (SV) resolution for CYP2D6, high-res HLA typing, and comprehensive clinical integration reports.

Clinical Translation Support

We bridge the gap between bioinformatics and pharmacy. Our reports are formatted to be instantly readable by clinicians and pharmacologists, highlighting "Red Flag" drug interactions based on the patient's genetic profile.

For research cohorts, we provide aggregated frequency data, population allele distributions, and methodology ready for submission to pharmacology and precision medicine journals.

Clinical researcher analyzing pharmacogenomics drug response data