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Analytical Specifications, Clinical Utility & Guideline Provenance: High-depth information for oncologists, rheumatologists, endocrinologists, pathologists, and laboratory directors.

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Evidence-Based Decision Support

Supporting, Not Replacing, Clinical Judgment

Reficio acts as an advanced diagnostic intermediary and decision-support framework. All high-complexity molecular and routine pathology assays are performed by ISO 15189:2022 and NABL accredited partner laboratories following standardized international quality control metrics (EQAS).

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Analytical Specifications & Quality Parameters

Detailed analytical sensitivity, specificity, limits of detection, specimen handling, and clinical limitations for core diagnostic methodologies.

Molecular Pathology & Precision Oncology

Comprehensive High-Depth Next-Generation Sequencing (NGS)

ISO 15189 Aligned

Targeted hybridization-capture NGS profiling across clinically actionable oncology gene panels and hereditary cancer susceptibility genes.

Analytical Sensitivity>99.0% for SNVs and small Indels (≥5% VAF)
Analytical Specificity>99.9% base call accuracy (Q30 ≥85%)
Limit of Detection (LOD)2% to 5% Variant Allele Frequency (VAF) at ≥500x mean target depth
Turnaround Time (TAT)10–14 Calendar Days
Specimen Handling Protocol:

EDTA whole blood (germline, 5–10 mL room temp) or FFPE tumor tissue blocks/slides (≥20% viable tumor nucleated cellularity).

Guideline Provenance:
  • NCCN Clinical Practice Guidelines in Oncology (Molecular Biomarkers)
  • AMP / ASCO / CAP Standards and Guidelines for the Interpretation of Somatic Variants
  • ACMG / ClinGen Technical Standards for Germline Sequence Variant Interpretation
Analytical & Clinical Limitations:
  • Does not detect low-level somatic mosaicism (<2% VAF) without specialized ultra-deep molecular barcoding (UMI).
  • Intronic structural variants outside targeted capture probes may not be fully resolved; orthogonal FISH or MLPA required when clinically indicated.
Clinical Microbiology & Molecular Diagnostics

Quantitative Real-Time PCR (qPCR / RT-qPCR)

ISO 15189 Aligned

Amplification and quantitative detection of viral and bacterial pathogen nucleic acids using CE-IVD and WHO-standardized molecular assays.

Analytical Sensitivity>98.5% clinical sensitivity for targeted pathogens
Analytical Specificity>99.5% analytical specificity with no cross-reactivity
Limit of Detection (LOD)Pathogen-specific (e.g. ≤15 IU/mL for HBV/HCV; ≤10 CFU/mL for TB qPCR)
Turnaround Time (TAT)24–48 Hours
Specimen Handling Protocol:

Plasma (EDTA tube, spun within 6 hrs and frozen at -20°C or colder), primary sputum / BAL for respiratory targets, or cervical swabs in transport media.

Guideline Provenance:
  • WHO consolidated guidelines on tuberculosis: Module 3: diagnosis (April 2025)
  • WHO guidelines for the screening, care and treatment of persons with chronic HCV infection (2022)
  • WHO guideline for screening and treatment of cervical pre-cancer lesions (2021)
Analytical & Clinical Limitations:
  • Mutations at primer/probe binding sites may rarely result in under-quantification or false-negative results.
  • Presence of microbial DNA/RNA does not distinguish between viable replicating organisms and non-viable residual nucleic acids post-treatment.
Clinical Biochemistry & Automated Immunoassays

Chemiluminescence Immunoassays (CLIA / ECLIA)

ISO 15189 Aligned

High-throughput, automated electrochemiluminescent and chemiluminescent immunoassay technology for endocrine hormones, inflammatory cytokines, and autoimmune serology.

Analytical SensitivityCalibrated to WHO International Standards; intra-assay CV <3.5%, inter-assay CV <5.0%
Analytical SpecificityHigh epitope specificity with automated pre-incubation blocking
Limit of Detection (LOD)High-sensitivity (e.g. hs-CRP 0.1 mg/L, IL-6 1.5 pg/mL, TSH 0.005 μIU/mL)
Turnaround Time (TAT)12–24 Hours
Specimen Handling Protocol:

Serum (SST tube, centrifuged within 2 hours, refrigerated at 2–8°C for up to 48 hrs or frozen at -20°C for delayed batching).

Guideline Provenance:
  • ISO 15189:2022 Medical Laboratories — Requirements for Quality and Competence
  • CLSI EP05-A3 Evaluation of Precision of Quantitative Measurement Procedures
  • Endocrine Society Clinical Practice Guidelines
Analytical & Clinical Limitations:
  • Heterophilic antibodies or extreme human anti-mouse antibodies (HAMA) may rarely interfere; suspected discordant results should be retested with blocking agents.
  • High-dose biotin ingestion (>5 mg/day) can cause clinically significant assay interference with streptavidin-biotin based methodologies.
Clinical Pharmacology & Pharmacogenomics

Targeted Pharmacogenomic Genotyping & CYP450 Panel

ISO 15189 Aligned

Targeted allelic discrimination of phase I/II drug-metabolizing enzymes and drug transporters guiding individualized dosing and toxicity reduction.

Analytical Sensitivity>99.5% for predefined star (*) alleles
Analytical Specificity>99.9% analytical concordance on reference panels
Limit of Detection (LOD)Single-copy allele discrimination from 10 ng genomic DNA
Turnaround Time (TAT)5–7 Calendar Days
Specimen Handling Protocol:

EDTA whole blood (3–5 mL) or buccal swab / saliva in DNA stabilization buffer stored at room temperature.

Guideline Provenance:
  • Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines
  • PharmGKB Clinical Annotations & Evidence Levels
  • FDA Table of Pharmacogenomic Biomarkers in Drug Labeling
Analytical & Clinical Limitations:
  • Only interrogates defined star (*) alleles included in the assay panel; rare novel or uncharacterized mutations are not captured.
  • Genotype is one factor among age, body mass, renal/hepatic clearance, and drug-drug interactions determining clinical drug response.
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Relevant Diagnostic Investigations

Explore verified pathology tests, precision genomic panels, and clinical guidelines related to Clinical Practice & Professional Diagnostics.

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Standard & Specialized Pathology Tests

T0989Gestational Diabetes Screening and Diagnosis - 2 step procedure (ADA), Fluoride Plasma

Diabetes • Sample: Refer to individual tests

₹315Details
A0445ANCA (Anti neutrophil cytoplasmic antibody), Serum

Autoimmune & Rheumatology • Sample: 3 ml

₹2,495Details
P0081ANCA - PR3, Serum

Autoimmune & Rheumatology • Sample: 3 ml

₹1,595Details
A0512ANCA by IFA reflex MPO/PR3 Antibodies

Autoimmune & Rheumatology • Sample: 3 ml

₹2,600Details
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Relevant Precision Genomics Assays

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

BRCA1, BRCA2, TP53, PALB2 • 10 to 14 working days

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

6,000+ OMIM-annotated human disease-causing genes encompassing all known Mendelian phenotypes • 14 to 21 working days

View Assay
Somatic Solid Tumor 52-Gene Comprehensive Theranostic NGS PanelPREDICTIVE

EGFR (Exons 18-21), KRAS (Codons 12, 13, 61, 146), NRAS, BRAF (V600) • 7 to 10 working days

View Assay

Aligned Clinical Practice Guidelines

WHO guideline for screening and treatment of cervical pre-cancer lesions for cervical cancer prevention, second editionWorld Health Organization (WHO) • Cervical Pre-Cancer & HPV Infection
Read Protocol
ICMR Guidelines for Cervical Cancer Screening & Management in IndiaIndian Council of Medical Research (ICMR) & MoHFW • Cervical Pre-Cancer & HPV Infection (India National Protocol)
Read Protocol