GT HapScreen® PAH

SKU: GT-11202 Categories: ,

The GT HapScreen® PAH kit is developed to aid detection of carriers and/or affected individuals with phenylketonuria caused by mutation in the PAH gene. The kit functions based…

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.

Premium Features

  • 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

Markers present in the GT HapScreen®PAH kit

Markers (panel)

D12PAHSU17.6, D12PAHSU3.7, D12PAHSU3.3, D12PAHSI1, D12PAHSD3, D12PAHSD4.2, D12PAHSD4.8, D21S1446, D21S1414, D21S1411, D18S391, D18S1002, D13S325, DXS7132, SRY and AMXY

GT HapScreen® PAH kit panel. As can be seen there are 7 PAH gene linked STR markers and an extra STR marker on the X-chromosome as well as the AMXY and SRY. The kit also contains 3 STR markers for chromosome 21, 1 for chromosome13 and 2 for chromosome 18, in total 16 markers in a 5-dye multiplex PCR system.

Chromosome Locations

Compatibility

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).

Kit Content

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).

User Manuals

GT HapScreen® PAH User Manual Login to download
GTM5 User Manual Login to download

Quick Protocols

GT HapScreen® PAH Quick protocol Login to download
GTM5 Quick Protocol Login to download
GT500 Quick Protocol Login to download

Analysis Assistant

GeneMapper ID v.3.2 Login to download
GeneMapper IDX v.1.3 Login to download
GeneMapper IDX v.1.4 Login to download
GeneMapper IDX v.1.5 Login to download
GeneMapper IDX v.1.6 Login to download
GeneMapper v6 Login to download
GeneMarker Login to download

MSDS (SDS)

PCR Mix Login to download
Primer Mix Login to download
HSTaq Login to download
GT QCDM Login to download
PCR Grade Water Login to download
GT500 Size Standard Login to download
GTM5 Matrix Standard Login to download

Size SKU. No. Order
50 RXN GT-11202-50 Order Now
100 RXN GT-11202-100 Order Now
1000 RXN GT-11202-1K Order Now
10000 RXN GT-11202-10K Inquire

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