The GTHapScreen PAH kit is developed to detect carrier and/or affected sample for Phenylketonuria (commonly known as PKU). The kit functions on the principle based on STR markers and QF PCR technique to detect carrier or to be patient by linkage analysis. Use of STR markers makes prenatal diagnosis more accurate and reliable.
Kit components include multiplex PCR primers which are designed from PAH gene. This gene is commonly used in carrier detection and prenatal diagnosis of Phenylketonuria. STR markers designed from 7 regions that covers the upstream, downstream and Intron of the PAH gene.
This kit is optimised to use DNA samples purified from blood, amniotic fluid, and chorionic villus (CVS).
Along with PKU detection the GTHapScreen PAH kit includes autosomal STR markers for Chromosome 21, 18, 13, X and Y. These markers provide extra advantages along with detection of this disorder.
- Aids carrier detection and prenatal diagnosis
- Rules out/in sample authenticity, maternal cell contamination
- It detects uniparental disomy
- Chromosomal aneuploidy detection
- Determination of fetus’ sex
For Research Use only. Not for use in diagnostic procedures
Certificate of Analysis
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Novel approach for more accurate and risk-free Prenatal Diagnosis of Single Gene Disorders.
In a single reaction user can achieve –
- Track disease gene segregation in a pedigree
- To rule out/in maternal cell contamination
- To rule out/in sample mix-up
- To ascertain sample authenticity
- To ascertain sample sexing
- To check for possible chromosomal aneuploidy
- Gonadal mosaicism (mostly in X-linked disorders)
The HapScreen Kits are developed to detect various genetic diseases. The kit functions on the principle based on STR markers detection using QF PCR technique. Kit components include multiplex PCR primers which are designed from the flanking region of a given gene and tagged with fluorescent dye for rapid detection.
Differentiation between affected and unaffected fetus is achieved by the highest precision and quality. Multiple markers for target gene increase the accuracy of correct diagnosis and minimize the chance of misdiagnosis.
Why HapScreen® Kits?
In most countries prenatal testing for chromosomal aneuploidies are in practice. Most routine procedures (i.e. first and second-trimester combined ultrasound and biochemical screening) have drawbacks in that there is false positive or false negative in detecting chromosomal aneuploidies.
Every genetic diagnostic laboratory come across problems like sample mix-up and maternal cell contamination while performing the prenatal diagnosis for single gene disorder. These errors can lead to a mis diagnosis and false negative screening.
Each HapScreen kit accommodate certain STR markers from chromosome 21, 18, 13 and sex chromosomes along with disease specific markers. Resulted alleles from these STR markers can help in sample authentication and rules out maternal cell contamination.
These chromosomal markers also can be used to see if there is any aneuploidy for the chromosomes tested. If any aneuploidy is suspected, then the sample can be tested with more markers using QFPCR like our AneuSure® kit.
We offer following variations of GTHapScreen® kit for specific disease detection:
We have 50 or more GTHapScreen kits for the detection of various genetic diseases, please have a look here.
We are also happy to develop disease specific kit on customer request. Please contact us!