FAST-HBB® NGS SEQUENCING KIT
In the Mediterranean region, where our country is located, β globin chain is rarely expressed or completely silenced and due to this β thalassemia major disease is observed frequently. β-thalassemia major occurs in those who have mutations homozygous or compound heterozygous. β-thalassemia major, growth retardation, and impaired organ function due to an increase in almost all developing iron overload iron absorption is characterized by recurrent blood transfusions is a form of hemolytic anemia. β-thalassemia minor (β-thalassemia carrier) refers to the carrier state that occurs when there is one mutation in the gene. Carriers often do not show clinical symptoms and are noticed during routine blood counts. β-thalassemia carrier rate is up to 10 percent in some regions. The disease causes mutations in the HBB gene. More than 800 mutations have been detected in the HBB gene. Fast-HBB NGS SEQUENCING kit is a new generation of sequence analysis-based kit developed to investigate mutations in HBB genes in DNA molecules isolated from blood or tissue. Developed to enrich all echonons, introns, and 3’ UTR regions of the HBB gene for the next generation array analysis method, this kit succeeds with a single PCR reaction performed in a single tube.
- FAST-HBB® NGS SEQUENCING KIT, hem yapısal hemoglobin varyantlarının hem de talasemik varyantların eksiksiz bir şekilde taranabilmesi için geliştirilmiştir.
- Ayrıca Orak Hücreli Anemi tanısı da konulabilmektedir.
- Hemoglobinopati taşıyıcılarındaki genetik bozukluğun ortaya konulması tanıyı kesinleştirmede, genetik danışmada, prenatal tanı endikasyonu konulmasında, izlem ve tedavide son derece önemlidir.