BT-Q Real-Time PCR Kit

Qualitative Detection of Beta Thalassemia Mutations by Real-Time PCR

The BT-Q Real-Time PCR Kit is an in vitro diagnostic molecular assay designed for the qualitative detection of Beta Thalassemia-associated mutations in human genomic DNA using real-time PCR technology. The assay supports genetic screening and diagnosis of beta-thalassemia by identifying clinically relevant mutations in the HBB gene.

At a Glance

Product Overview

The BT-Q Real-Time PCR Kit is designed to detect multiple mutations in the beta-globin (HBB) gene associated with beta-thalassemia. The assay uses allele-specific primers and fluorescent probes to differentiate between wild-type and mutant alleles. The kit consists of 12 ready-to-use reaction tubes, each containing pre-formulated master mix with PCR buffer, Taq polymerase, specific primers, and probes. Each reaction detects either wild-type or mutant variants along with a Beta-actin internal control.

Fluorescence detection is performed using:

  • FAM and HEX channels: Target mutations and wild-type alleles
  • Cy5 channel: Internal control (Beta-actin)
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How the Assay Works

The assay follows a structured molecular workflow:

  • Sample Collection & DNA Extraction: Genomic DNA is extracted from EDTA-treated whole blood samples using validated extraction methods.
  • Reaction Setup: Extracted DNA is added to pre-filled ready mix tubes containing allele-specific primers and probes.
  • Real-Time PCR Amplification: Target regions of the HBB gene are amplified using real-time PCR.
  • Fluorescent Detection: Amplification signals are detected across FAM, HEX, and Cy5 channels.
  • Result Interpretation: Genotypes are determined based on amplification patterns across wild-type and mutant reactions.

Key Features & Benefits

  • Detection of 12 beta-thalassemia mutations
  • Allele-specific real-time PCR for genotyping
  • Differentiation of wild-type, heterozygous, and mutant genotypes
  • Multi-channel fluorescence detection (FAM, HEX, Cy5)
  • Internal control for assay validation
  • Ready-to-use master mix for simplified workflow

Why Beta Thalassemia Genetic Testing Matters

Beta-thalassemia is an inherited blood disorder caused by mutations in the HBB gene, leading to reduced or absent beta-globin production. This results in ineffective erythropoiesis and varying degrees of anaemia.

Early detection of mutations supports:
  • • carrier screening
  • • diagnosis of affected individuals
  • • genetic counselling
  • • informed reproductive decision-making

Mutation Coverage

Mutation Coverage

The assay detects the following 12 Beta Thalassemia mutations:

  • IVS1.1 (G>A), IVS2.1 (G>A), IVS1.110 (G>A),
  • IVS2.745 (C>G), IVS1.5 (G>C), IVS1.6 (T>C),
  • -30 (T>A), Cd 5 (-CT), Cd 29 (C>T),
  • Cd 39 (C>T), Cd 44 (-C), HbS (Haemoglobin S variant)
Genotype Interpretation

Genotype determination is based on amplification patterns:

  • Wild-Type: Amplification only in wild-type reaction
  • Heterozygous: Amplification in both wild-type and mutant reactions
  • Homozygous Mutant: Amplification only in mutant reaction

Comprehensive Panel Advantage

The assay enables simultaneous detection of 12 clinically relevant beta-thalassemia mutations in a single workflow. This comprehensive panel approach improves efficiency by reducing the need for multiple individual assays and supports broader genetic screening.

Sample Type & Reporting Output

Sample Types
  • Whole blood (EDTA)
Reporting Output
  • Qualitative genotyping (wild-type / heterozygous / homozygous mutant)

Analytical Performance

The assay demonstrates the following performance characteristics:

Reliable genotype :
Reliable genotype discrimination across all mutation targets
Consistent Ct range:
21–26 (±2–3 cycles depending on extraction method)
Internal control validation:
Ct range 22–26
Accurate:
Accurate differentiation of wild-type, heterozygous, and mutant profiles
Validated Controls:
Positive and no-template controls ensure assay reliability

Designed for Laboratory Efficiency

The assay is optimized for streamlined workflows:

  • Ready-to-use reaction mixes reduce preparation time
  • Multi-tube format enables structured mutation detection
  • Closed-tube detection minimizes contamination risk
  • Compatible with standard real-time PCR platforms

Storage and Stability

  • Shelf life: 12 months from date of manufacture
  • Storage temperature: -30°C to -10°C
  • Components stable at -20°C until expiry
  • Avoid repeated freeze-thaw cycles (>6 times)
  • Protect from direct sunlight

Applications & Use Scenarios

The kit is intended for use in clinical and research laboratories for:

  • Genetic screening of beta-thalassemia mutations
  • Carrier detection and population screening
  • Diagnosis of beta-thalassemia
  • Genetic counselling support
  • Research in hemoglobinopathies

Ordering Information

Commercial Name Old Cat No. New Cat No. Pack Size
BT-Q Real-Time PCR Kit Beta Thalassemia 50T G2M803021 50 Tests

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