For more accurate and risk free prenatal diagnosis of beta-thalassemia and Sickle Cell disease
Hemoglobinopathies (all forms of genetic diseases of hemoglobin, including Beta-thalassemia (β-thal), Sickle Cell Disease, as well as HbH disease) are among the most prevalent monogenic disorders worldwide. β-thalassemia is more prevalent in the Middle East and Mediterranean regions. Sickle Cell Disease (SCD) is mostly seen in Africa and people of African descent. Alpha-thalassemia related disorders such as HbH disease is more prevalent in the East and Southeast Asia. The gene responsible for β-thal and SCD is named beta-globin. The gene is on the short arm of chromosome 11 at 11p15. Most prenatal diagnosis carried out worldwide are related to hemoglobinopathies.
The GT HapScreen® HBB kit is developed to aid detection of carriers and/or affected individuals with β-thalassemia and Sickle cell disease. The kit functions based on STR markers and QF-PCR technique to detect carrier as well as fetal samples by linkage and haplotype analysis. The use of STR markers, coupled with direct mutation detection, makes prenatal diagnosis more accurate and more reliable. The kit functions on the principle of haplotyping, haplotype phasing and segregation analysis.
Kit components include multiplex PCR primers which are designed for the HBB gene. This gene is investigated in carrier detection and prenatal diagnosis of β-thal., SCD and other β-globin gene linked hemoglobinopathies. STR markers cover 5 regions upstream and downstream of the b-globin gene.
Along with β-thal and SCD detection, the GT HapScreen® HBB kit includes autosomal STR markers used for QF-PCR to detect aneuploidies of chromosomes 21, 18, 13, X and Y as well as many other advantages outlined in the introduction section of GT HapScreen® kits. These markers provide extra advantages along with the detection of diseases.
- Aids carrier detection and prenatal diagnosis;
- Shows how disease gene is segregated;
- Rules out/in sample authenticity, maternal cell contamination, sample mix-up;
- Detects uniparental disomy;
- Detects Chromosomal aneuploidy;
- Determines sex of the fetus.
For research use only. Not for use in diagnostic procedures
Markers present in the GT HapScreen® HBB kit
D11HBBSU11, D11HBBSU6.1, D11HBBSU2.9, D11HBBSD3.3, D11HBBSD11.2, D21S1446, D21S1414, D21S1411, D18S390, D18S1002, D13S325, D13S252, DX-TATC 13.3 and AMXY
This kit is compatible with 5 dyes capillary electrophoresis systems such as with ABI 3130/xl, 3500/xL Genetic Analyzers with either 30, 50, or 80 capillaries.
This kit can be used on various sources of DNA including DNA extracted from various sources or DNA obtained using any of extraction free (direct) materials from Genetek such as GT AFLB (Amniotic Fluid Lysis Buffer), GT CVLB (Chorionic Villus Lysis Buffer, GT BLB (Blood Lysis Buffer), and filter papers (GT DBC or GT DBC Blue).
What’s included in the kit
The kit contains all the necessary reagents and buffers for multiplex PCR (Multiplex Primer mix, PCR buffer, GT HSTaq DNA Pol in Box A). Also, the kit comes with GT500 size standard as well as GTM5 Matrix Standard for calibrating the Genetic Analyzer (Box B).