BT-Q Real Time PCR Kit - Genes2Me™

Product Overview

Beta-thalassemia is one of the most common inherited blood disorders worldwide, caused by mutations in the beta-globin (HBB) gene that impair the production of functional hemoglobin. Reduced or absent beta-globin synthesis results in ineffective erythropoiesis, chronic anemia, and a range of clinical manifestations that vary from mild carrier states to severe transfusion-dependent disease.

Early and accurate identification of beta-thalassemia mutations is essential for diagnosis, carrier screening, genetic counseling, prenatal risk assessment, and disease management. Molecular testing enables definitive identification of disease-causing mutations that may not be distinguishable through routine hematological investigations alone.

The BT-Q Real Time PCR Kit from Genes2Me is a highly specific in vitro diagnostic assay designed for the qualitative detection of 12 clinically significant beta-thalassemia mutations directly from DNA extracted from human EDTA blood samples. Utilizing advanced real-time PCR technology and mutation-specific fluorescent probes, the assay provides rapid and reliable detection of both wild-type and mutant alleles, supporting comprehensive genetic evaluation of beta-thalassemia.

Targets:

12 Clinically Relevant Beta-Thalassemia Mutations in the HBB Gene, including 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), and HBS.

Technology:

Real-Time PCR (TaqMan)

Detection:

Qualitative Detection of Beta-Thalassemia Mutations (Detected / Not Detected)

Sample Type:

Whole blood samples

Certification:

CE-IVD

How the Assay Works

The BT-Q Real Time PCR Kit is based on the probe-based real-time PCR technology to identify 12 clinically relevant mutations associated with beta-thalassemia. The assay detects the following 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), and HBS.

12 ready-to-use reaction mixes are there in the kit, with separate tubes designed for wild-type and mutant allele detection. Each reaction contains mutation-specific primers, fluorescent probes, PCR buffer, Taq polymerase, and a Beta-Actin internal control labeled with Cy5.

During amplification, the DNA polymerase cleaves hybridized probes, generating fluorescence signals in FAM and HEX channels for mutation detection, while the Cy5 channel monitors internal control performance. The resulting amplification curves enable differentiation between homozygous wild-type, heterozygous, and homozygous mutant genotypes.

Why Molecular Testing Matters for Beta-Thalassemia

Beta-thalassemia is caused by a diverse range of mutations in the HBB gene, making molecular characterization critical for accurate diagnosis. Traditional hematological tests may indicate the presence of a hemoglobin disorder but often cannot identify the specific mutation responsible.

Molecular detection provides definitive genetic confirmation, facilitates carrier identification, and supports informed reproductive decision-making.

The BT-Q assay enables rapid and reliable detection of common beta-thalassemia mutations, helping clinicians establish accurate diagnoses and guide appropriate patient management strategies.

Sample Type & Reporting Output

Sample Type:

Human EDTA Whole Blood

Reporting Output:

Qualitative Detection of Beta-Thalassemia Mutations

Targets Detected:

Key Features & Benefits

Comprehensive mutation coverage

Detects 12 clinically relevant beta-thalassemia mutations frequently associated with inherited haemoglobin disorders.

Genotype differentiation

Accurately distinguishes homozygous wild-type, heterozygous, and homozygous mutant genotypes for precise genetic characterization.

Built-in internal control

Beta-Actin internal control validates DNA quality, extraction efficiency, and PCR performance in every reaction.

Ready-to-use reagents

Ready-to-use reagents – Pre- formulated master mixes minimize hands-on time, reduce setup errors, and improve workflow efficiency.

Multi-platform compatibility

Validated on QuantStudio 5, Bio-Rad CFX96, LightCycler 480, and Genes2Me RapiCycler 96 systems.

Applications

Clinical Diagnostic Laboratories: Supports molecular diagnosis of beta-thalassemia in patients presenting with unexplained anemia, abnormal hemoglobin profiles, or suspected inherited hemoglobin disorders.
Prenatal and Preconception Testing: Assists in assessing genetic risk in couples with a family history of beta-thalassemia or known carrier status.
Hematology and Hemoglobinopathy Clinics: Provides mutation-specific information to complement hematological investigations and confirm clinical diagnoses.
Genetic Counseling Services: Supports informed reproductive decision-making through accurate mutation identification and risk assessment.

Analytical Performance

Detection of 15 clinically significant Y chromosome loci covering AZFa, AZFb, AZFc, and AZFd regions
Internal control Ct range of 22–26 confirms acceptable assay performance
Mutation-specific amplification typically observed within Ct range of 21–26
Positive control included for assay validation and workflow monitoring
12-month shelf life under recommended storage conditions

Commercial Name	Old Cat No.	New Cat No.	Pack Size
BT-Q Real Time PCR Kit Beta Thalassemia	G2M803321	G610036	25 Tests

Since its inception in 2016, Genes2me has been constantly striving towards setting a benchmark in the diagnostics space by introducing premium quality (Made in India) diagnostic kits which are CE-IVD, ISO-13485:2016, and ISO 9001:2015 certified, assuring our clients of unparalleled quality and compliance with international standards.

BT-Q Real Time PCR Kit for Beta Thalassemia

Product Overview

How the Assay Works

Why Molecular Testing Matters for Beta-Thalassemia

Sample Type & Reporting Output