CSIR-SCAN - Molecular Kit for Screening and Confirmation of Sickle Cell Anemia

This technology is a one-step molecular test for detection of the mutation causing Sickle Cell Anaemia (SCA) with direct use of whole-blood (WB)/dried blood spot (DBS) as template and mutation-specific primers (using Allele-Specific Primers) in a single tube polymerase chain reaction (PCR), followed by detection of individual status using conventional methods. It combines the established knowledge of SCA genetics, basic molecular biology techniques, limitations of the current methods, along with innovative steps to convert a simple concept to a test following ASSURED criteria (Affordable, Sensitive, Specific, User-friendly, Rapid and robust, Equipment-free or simple, and Deliverable to end-users). The hallmark of the technology is the combination of novel primers specifically designed to robustly detect the SCA mutation and a reagent mix that can overcome blood resistance and selectively amplify individual alleles at the mutation, allowing discrimination between normal, carrier and the patients with very high specificity and sensitivity. The robust technology is complimented by a collection kit designed for painless collection of a drop of blood through a finger prick on the newly designed card and makes this technology following REASSURED criteria (including Real-time connectivity, Ease of specimen collection).

The hallmark of the technology is the combination of novel primers specifically designed to robustly detect the SCA mutation and a reagent mix that can overcome blood resistance and selectively amplify individual alleles at the mutation, allowing discrimination between normal, carrier and the patients with very high specificity and sensitivity. The robust technology is complimented by a collection kit designed for painless collection of a drop of blood through a finger prick on the newly designed card and makes this technology following REASSURED criteria (including Real-time connectivity, Ease of specimen collection).

1. It relies on direct use of whole-blood/dried blood spot as template for PCR, thus making it affordable by reducing the paraphernalia and the cost of DNA isolation

2. Use of specific primers targeting the mutation makes it possible to amplify individual alleles at the mutation in one single tube and aid confident determination of the genotype (status of the individual)
3. The most important component is the reagent mix that overcomes blood resistance and allows PCR amplification as described above.
4. The process is very high throughput making it possible for expedient screening and confirmation of Sickle Cell Anaemia.