SCA-Q Real Time PCR Kit - Genes2Me™ | Sickle Cell Anemia Detection

Product Overview

Sickle Cell Anemia (SCA) is one of the most common inherited hemoglobin disorders worldwide and is caused by a single nucleotide mutation (Point Mutation) in the beta-globin (HBB) gene. This mutation results in the substitution of valine for glutamic acid in the hemoglobin molecule, producing abnormal hemoglobin S (HbS). Under low oxygen conditions, HbS causes red blood cells to assume a characteristic sickle shape, reducing their flexibility and impairing oxygen transport throughout the body.

Individuals affected by sickle cell disease may experience chronic anemia, painful vaso-occlusive crises, recurrent infections, delayed growth, organ damage, and other severe complications. Early and accurate detection of the genetic mutation is essential for diagnosis, carrier screening, genetic counseling, newborn screening programs, and clinical management.

The SCA-Q Real Time PCR Kit from Genes2Me is a highly sensitive and specific molecular assay designed for the qualitative detection of the sickle cell mutation in human DNA extracted from blood samples. Utilizing real-time PCR technology with allele-specific probes, the kit accurately differentiates between wild-type, heterozygous, and homozygous mutant genotypes, enabling rapid and reliable identification of sickle cell disease and carrier status.

Targets:

Beta globin gene mutation: GAG →GTG (Glu →Val)

Technology:

Real-Time PCR (TaqMan Probe based)

Detection:

Qualitative Detection of SCA Mutation (Detected / Not Detected)

Sample Type:

Whole Blood

Certification:

CE-IVD

How the Assay Works

The SCA-Q Real Time PCR Kit utilizes real-time PCR technology with mutation-specific primer-probe chemistry to detect the beta-globin GAG→GTG (Glu-Val) mutation associated with sickle cell anemia.

The assay employs:

FAM-labelled probe for detection of the wild-type beta-globin allele.
Texas Red/ROX-labelled probe for detection of the sickle cell mutant allele.

Separate reactions are performed for wild-type and mutant allele detection. Amplification of the wild-type target simultaneously serves as an internal process control, confirming successful DNA extraction and absence of PCR inhibition. The assay includes positive and negative controls for run validation and delivers clear genotype differentiation:

Homozygous Wild Type (A/A)
Heterozygous Carrier (A/T)
Homozygous Mutant (T/T)

Ready-to-use reagents minimize hands-on time and reduce the risk of workflow errors, ensuring consistent laboratory performance.

Why Molecular Testing Matters for Sickle Cell Anemia

Conventional screening methods such as hemoglobin electrophoresis and solubility testing can identify abnormal hemoglobin but may not always provide definitive genetic characterization. Molecular testing directly detects the underlying HBB gene mutation responsible for sickle cell anemia, enabling precise diagnosis and carrier identification. Accurate molecular testing is particularly valuable in regions with a high prevalence of hemoglobinopathies and in population screening programs.

Key Features & Benefits

Accurate genotype differentiation

Specifically identifies wild-type, heterozygous carrier, and homozygous mutant genotypes, supporting definitive diagnosis and carrier screening.

Allele-specific detection chemistry

Uses dedicated FAM and Texas Red/ROX-labelled probes for precise discrimination between normal and mutant alleles.

Built-in process control

Wild-type amplification acts as an internal control to verify DNA quality, extraction efficiency, and PCR performance.

Ready-to-use workflow

Pre-formulated reagents reduce manual preparation steps, minimizing operator variability and setup errors.

Broad instrument compatibility

Validated on major real-time PCR platforms including QuantStudio™ 5, Bio-Rad CFX96, LightCycler® 480, and RapiCycler 96.

Applications

Clinical & Diagnostic Laboratories: Supports accurate diagnosis of sickle cell disease in symptomatic individuals presenting with anemia, pain crises, or other disease-related complications.
Carrier Screening Programs: Identifies heterozygous carriers of the sickle cell mutation for informed reproductive planning and family counseling.
Genetic Counseling Programs: Enables informed counseling regarding inheritance risks, fertility prognosis, and reproductive planning.
Newborn Screening: Facilitates early genetic detection before the development of clinical symptoms, enabling timely intervention and disease management.
Prenatal & Preconception Testing: Supports genetic risk assessment for couples with a family history of sickle cell disease or known carrier status.
Research Applications: Useful for studying the prevalence, distribution, and genetic epidemiology of sickle cell mutations in different populations.

Analytical Performance

Specific detection of the beta-globin GAG→GTG (Glu-Val) sickle cell mutation.
Qualitative genotype reporting as Wild Type, Heterozygous, or Homozygous Mutant.
• Positive Control (PC) must amplify with a Ct value ≤28 in both FAM and Texas Red/ROX channels.
Internal control mechanism validates DNA extraction quality and PCR efficiency.
Positive and negative controls included for assay integrity and contamination monitoring.
PC Ct ≤28 confirms the assay is performing correctly, whereas sample Ct ≤35 determines whether a test sample is positive.

Commercial Name	Old Cat No.	New Cat No.	Pack Size
SCA-Q Real Time PCR Kit	G2M803221	G2M803221	50 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.

SCA-Q Real Time PCR Kit for Sickle Cell Anemia

Product Overview

How the Assay Works

Why Molecular Testing Matters for Sickle Cell Anemia

Sample Type & Reporting Output