FAST-HBB® NGS SEQUENCING KIT

FAST-HBB® SEQUENCING KIT is a Sanger sequence analysis based kit developed to investigate mutations occurring in the HBB gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to sequence all exons, introns, the 5 ‘and 3’ UTR regions of the HBB gene by Sanger sequence analysis method, achieves this with a single PCR reaction that is realized in 5 tubes.

USAGE AREAS

FAST-HBB® SEQUENCING KIT was developed for the complete screening of both structural hemoglobin variants and thalassemic variants. Sickle cell anemia can also be diagnosed. The establishment of a genetic disorder in hemoglobinopathy carriers is extremely important in confirming the diagnosis, genetic counselling, indicators for prenatal diagnosis, its monitoring and its treatment.

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Description

In the countries within the Mediterranean region, which includes Turkey, the major disease of β-thalassemia, in which the β-globin chain is produced in reduced quantities or not at all, is often observed. β-thalassemia is one of the most common single gene diseases and is an important public health problem. Mutations in the β-globin (HBB) gene are responsible for this disease and the disease is inherited as autosomal recessive. The major strain of β-thalassemia occurs in those who carry the mutations as a homozygote or combined heterozygote.

β-thalassemia is a form of hemolytic anemia characterized by major growth retardation, deterioration in almost all organ functions, increased iron absorption, and iron loading due to recurrent blood transfusions. The minor strain of β-thalassemia (β-thalassemia carrier) refers to the carrier state resulting from the presence of one mutation in the gene. Carriers often do not exhibit clinical symptoms and it may not be picked up during routine blood counts. The β-thalassemia carrier rate is as high as 10% in some regions in our country.

The disease is caused by mutations in the HBB gene. More than 800 mutations have been identified in the HBB gene.

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Additional information

TECHNICAL SPECIFICATIONS

Main Material DNA
Number of Tests 50 Reactions
Storage -20°C
Sequence Type Sanger
Transportation conditions With dry ice and cold chain
Kit Content PCR Mix, Primer Mix-I , Primer Mix-II , Primer Mix-III , Primer Mix-IV , Primer Mix-V , Universal Forward Primer, Universal Reverse Primer