Precision & Molecular Diagnostics Suite

Translational Genomics & Molecular Biomarkers

Authoritative genomic profiling covering targeted NGS oncogene panels, clinical exome sequencing, liquid biopsy ctDNA, metagenomics, and epigenetic methylation clocks with strict scientific classification.

Scientific Classification Rule: Not all molecular assays represent a definitive "diagnosis". Every Reficio genomic panel is classified into its validated evidence domain: Diagnostic, Prognostic, Predictive, Screening, Risk/Susceptibility, or Research Use Only.
RISK SUSCEPTIBILITY₹14,500

30-Gene Hereditary Cancer Germline NGS Panel with High-Resolution CNV

Identifies pathogenic germline variants conferring lifetime cancer predisposition for Hereditary Breast and Ovarian Cancer (HBOC), Lynch Syndrome, and Li-Fraumeni Syndrome.

Target Genes / Analytes:
BRCA1BRCA2TP53PALB2MLH1MSH2MSH6PMS2EPCAMCDH1PTENSTK11ATMCHEK2BRIP1RAD51CRAD51DBARD1
Platform:Illumina SBS High-Throughput Sequencing (Hybrid-Capture)
Turnaround:10 to 14 working days
Sample Specimen:3 mL EDTA Peripheral Whole Blood or Oragene Saliva Kit
DIAGNOSTIC₹22,050

Clinical Exome Sequencing (Mendelian Phenome > 6,000 Disease Genes)

Definitive molecular diagnosis for complex neurodevelopmental delays, inborn errors of metabolism, rare syndromic presentations, and atypical pediatric disorders.

Target Genes / Analytes:
6,000+ OMIM-annotated human disease-causing genes encompassing all known Mendelian phenotypes
Platform:Illumina NovaSeq 6000 Dx Sequencing System with Agilent SureSelect Clinical Target Enrichment
Turnaround:14 to 21 working days
Sample Specimen:3 to 5 mL EDTA Whole Blood (Trio testing with biological parents recommended for de novo variant curation)
PREDICTIVE₹25,000

Somatic Solid Tumor 52-Gene Comprehensive Theranostic NGS Panel

Identifies actionable predictive biomarkers for FDA/EMA approved targeted therapies (Osimertinib, Sotorasib, Dabrafenib+Trametinib, Larotrectinib, Trastuzumab) and resistance mutations.

Target Genes / Analytes:
EGFR (Exons 18-21)KRAS (Codons 12, 13, 61, 146)NRASBRAF (V600)PIK3CAERBB2ALKROS1RETNTRK1/2/3MET (Exon 14 skipping)KITPDGFRAFGFR1/2/3
Platform:Targeted Amplicon / Hybrid-Capture with Dual-Strand Molecular Barcodes (UMI)
Turnaround:7 to 10 working days
Sample Specimen:FFPE Tumor Block (minimum 20% viable tumor cell nucleated content) or 10 unstained charged slides
PROGNOSTIC₹28,500

Cell-Free circulating Tumor DNA (ctDNA) Liquid Biopsy Multiplex Assay

Minimally invasive molecular profiling for monitoring minimal residual disease (MRD), evaluating therapeutic response, and detecting emergent secondary resistance mechanisms (e.g. EGFR T790M/C797S or ESR1 mutations) prior to radiographic progression.

Target Genes / Analytes:
Actionable hotspots in EGFR, KRAS, NRAS, BRAF, PIK3CA, ERBB2, ESR1, ALK, MET, RET
Platform:Ultra-Deep Digital Sequencing (Illumina / Bio-Rad ddPCR orthogonal validation)
Turnaround:5 to 7 working days
Sample Specimen:2 x 10 mL Streck Cell-Free DNA BCT Blood Tubes (shipped ambient within 72 hours)
DIAGNOSTIC₹18,500

Clinical Metagenomic Next-Generation Sequencing (mNGS) for Pathogen ID

Unbiased, hypothesis-free detection of occult, fastidious, or unculturable pathogens directly from sterile clinical fluids in critically ill patients.

Target Genes / Analytes:
Universal bacterial (16S), fungal (ITS), viral, and eukaryotic parasitic genomic sequences across > 25,000 NCBI reference pathogens
Platform:Host-DNA-Depleted Shotgun Metagenomic Next-Generation Sequencing
Turnaround:48 to 72 hours
Sample Specimen:2 mL CSF, Synovial Fluid, BAL, Pleural Fluid, or EDTA Whole Blood Buffy Coat
RESEARCH USE₹19,000 (Research Use Only)

Genome-Wide DNA Methylation Biological Aging Clock Analysis (Horvath / GrimAge)

Quantifies epigenetic biological age acceleration relative to chronological age for longevity research and translational wellness studies. Strictly classified for Research & Investigational Use.

Target Genes / Analytes:
Epigenetic CpG dinucleotide methylation patterns across validated clock loci (cg05575921, ELOVL2, FHL2, PENK)
Platform:Illumina Infinium MethylationEPIC BeadChip Array / Targeted Bisulfite Pyrosequencing
Turnaround:15 to 20 working days
Sample Specimen:3 mL EDTA Whole Blood or Purified Genomic DNA (>= 500 ng)
RESEARCH USE₹8,500 (Research Use Only)

Circulating MicroRNA (miRNA) Hepatic & Fibrotic Biomarker Panel

Investigational non-coding microRNA expression signatures evaluated in metabolic dysfunction-associated steatohepatitis (MASH) and systemic fibrogenesis research.

Target Genes / Analytes:
hsa-miR-122-5phsa-miR-21-5phsa-miR-155-5phsa-miR-223-3phsa-miR-29a-3p
Platform:Stem-Loop Multiplex RT-qPCR with Spike-In Normalization (cel-miR-39)
Turnaround:5 to 7 working days
Sample Specimen:1 mL Platelet-Poor EDTA Plasma (prompt centrifugation and -80C preservation)