GT HapScreen® F8

Hemophilia A is the most prevalent X-linked bleeding disorder with a frequency of 1 in 5000-6000 male births. The disease is caused by a mutation in the Factor 8 gene (F8). The gene encodes the coagulation Factor VIII protein. The disease is predominantly seen in males. There are three types of the disease, mild, moderate, and severe. New cases are mostly caused by new mutation. The gene resides in the long arm of chromosome X (Xq28).

The GT HapScreen® F8 kit is developed to detect carriers and/or affected samples for Factor VIII deficiency, commonly known as Hemophilia A disorder. The kit’s detection method is 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 relies on the principle of haplotyping, haplotype phasing and segregation analysis.

Along with Factor VIII deficiency detection, the GT HapScreen® F8 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 the GT HapScreen® kits. These markers provide extra advantages, along with the detection of this disorder.

Kit components include multiplex PCR primers which are designed for regions flanking the F8 gene. This gene is used commonly in carrier detection and prenatal diagnosis of hemophilia A. STR markers designed from 5 regions that cover the upstream and downstream of the F8 gene.

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).

GT HapScreen® F8 Premium Features

• Aids carrier detection and prenatal diagnosis;
• Shows how disease gene is segregated;
• Rules out/in sample authenticity, maternal cell contamination;
• It aids gonadal mosaicism detection;
• Chromosomal aneuploidy detection;
• Determination of fetal sex.

For research use only. Not for use in diagnostic procedures.

Product Details

The kit has 5 linked STR markers flanking the 5’ and 3’ of the Factor 8 gene and an extra STR marker on the X-chromosome as well as the AMXY and SRY. The kit also contains 4 STR markers for chromosome 21, 2 for chromosome13 and 2 for chromosome 18, in total 16 markers in a 5-dye system.

Markers

DXF8SU6.1, DXF8SU6, DXF8SD1.6, DXF8D8.4, DXF8SD15.9, D21S1809, D21S1414, D21S1442, D21S1411, D18S391, D18S1002, D13S252, D13S634, DXS7132 and AMXY

Chromosome Locations

Chromosome location on the long arm of chromosome X for GT HapScreen F8 kit

Chromosome location on the long arm of chromosome X for GT HapScreen® F8 kit

Compatibility

This kit is compatible with 5-dye 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).

Kit Content

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).