For more accurate and risk free prenatal diagnosis of Phenylketonuria
Phenylketonuria (PKU) is a commonly inherited metabolic disorder. The disease is inherited as an autosomal recessive pattern. Mutations in the PAH (phenylalanine hydroxylase) gene are responsible for the classical type of the disease. More than 500 mutations have been found to cause the disease. Carrier screening, neonatal screening, as well as prenatal diagnosis, is in practice in most countries.
The GT HapScreen® PAH kit has been developed to aid carrier detection as well as prenatal diagnosis of Phenylketonuria (commonly known as PKU). The kit functions based on STR markers and QF-PCR technique to aid prenatal diagnosis via haplotyping and linkage analysis. Therefore, the use of STR based haplotyping, makes prenatal diagnosis more accurate and more reliable.
Kit components include multiplex PCR primers which are designed from the PAH gene, enzyme, PCR master mix, calibration matrix standard and size standard. The STR markers designed for 7 regions that cover the upstream, downstream and intron of the PAH gene. This kit is optimized to work with DNA samples purified mainly from blood, amniotic fluid, and chorionic villus (CVS).
Along with PKU detection, the GT HapScreen® PAH kit includes autosomal STR markers used for QF-PCR to detect aneuploidies of chromosomes 21, 18, 13, X and Y as well as sex typing. There are many advantages outlined in the introduction section of GT HapScreen® kits. So, for more information and assistance use the available information provided on our website or contact us for more presentation materials.
- Aids carrier detection and prenatal diagnosis;
- Shows how disease gene is segregated;
- Rules out/in sample authenticity, maternal cell contamination and twin sample mix-up, etc.;
- It detects uniparental disomy;
- Aids chromosomal aneuploidy detection;
- Determination of fetus’ sex.
For research use only. Not for use in diagnostic procedures
Markers present in the GT HapScreen®PAH kit
D12PAHSU17.6, D12PAHSU3.7, D12PAHSU3.3, D12PAHSI1, D12PAHSD3, D12PAHSD4.2, D12PAHSD4.8, D21S1446, D21S1414, D21S1411, D18S391, D18S1002, D13S325, DXS7132, SRY and AMXY
This kit is compatible with 5 dye system of capillary electrophoresis such as with ABI 3130/xl, 3500/xL and SeqStudio 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).