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Simple and robust chromosomal aneuploidy analysis with QF-PCR technology
Expertly balances clinical utility and ease of use
Compatible with a range of capabilities and instrumentation

Advantages of QST*R

Screening for Down's syndrome, Edwards' syndrome and Patau's syndrome is offered routinely to thousands of women each year as part of standard antenatal care. For those women identified as being at high risk of carrying a foetus with one of these conditions, chorionic villus sampling (10-12 weeks) or amniocentesis (14-18 weeks) is offered. Invasive testing may also be offered in pregnancies where a sex chromosome complement disorder is suspected. Testing of this invasive sample to give a diagnostic result was traditionally undertaken using standard cytogenetic techniques. These techniques, involving tissue culture and microscopic analysis, can take up to 14 days to provide a diagnosis. In particular, fluorescent in situ Hybridisation (FISH) using interphase cells is expensive, time consuming and unsuitable for high throughput use.

QST*R kits take advantage of the QF-PCR (Quantitative Fluorescence-Polymerase Chain Reaction) technique. Using PCR amplification, fluorescent dye labelled primers target highly polymorphic regions of DNA sequence, short tandem repeats (STRs), located on the chromosomes of interest.

Each targeted STR marker is specific to the chromosome on which it is located, thus the copy number of the STR marker can be diagnostic of the copy number of the chromosome. In an individual unaffected by a trisomy, two alleles of a chromosome specific STR are determined by the QF-PCR technique as two peaks in a 1:1 ratio. The observation of an extra STR allele as either a three peak pattern in a 1:1:1 ratio or two peak pattern in a 2:1 or 1:2 peak ratio is diagnostic of the presence of an additional sequence, which in turn may represent an additional chromosome as in the case of a trisomy.

Rapid prenatal aneuploidy analysis

Individual results can be obtained within a few hours of receipt of samples. In routine use, turnaround reporting times of less than 24 hours from sample receipt are easily achievable. QF-PCR does not require cell culture, resulting in reduced failure rates and cost savings.

QST*Rplusv2 is a highly multiplexed, single tube assay containing a total of 22 markers. Autosomal markers are used to detect the three most common viable autosomal trisomies: trisomy 21 (Down's syndrome), trisomy 18 (Edwards’ syndrome) and trisomy 13 (Patau's syndrome). Additional markers on the sex chromosomes X and Y, including a specific marker for the quantification of the number of X chromosomes, are useful in the diagnosis of sex chromosome aneuploidies. The chosen markers are highly informative with results obtained in >99% of samples. Reflex kits containing additional markers are available for follow up analysis in the rare case of an uninformative result.

Flexibility and simplicity from sample to report

The QST*R range is compatible with most commonly employed DNA extraction protocols, thermal cyclers and capillary electrophoresis instruments. This flexibility in approach is complemented by simple and easy to use analysis software for reporting. Results can be analysed through either Life Technologies GeneMapper or SoftGenetics GeneMarker software. GeneMarker’s operation now includes a customised Trisomy Analysis function. By selecting BPG (Best Practice Guidelines) settings within the Trisomy Analysis function users can quickly and accurately measure allele ratios to obtain a full patient sample report within minutes.

One PCR Illustration

One PCR

  • Simple set up – one tube per sample
  • Rapid – minimum hands on time, just add DNA
  • One step protocol – DNA extraction to PCR
  • Reduced risk of sample mix-up
  • Efficient – fewer consumables, reduced cost
One Analysis Illustration

One Analysis

  • Validated for use on the ABI3500 and SeqStudio Genetic Analyzers
  • Highly informative – multiplexed 5 dye chemistry
  • No post-PCR manipulation
  • One capillary per sample
  • Cost effective – less instrument consumables
One Report Illustration

One Report

  • GeneMarker™ and GeneMapper®  software applications
  • Simple data review and analysis
  • Easy to use intuitive software
  • Informative single page report
  • No data transfer required
 

Related Publications

  1. Inkster A, Thomas M. A, Gamache N. S, Chan M, Stenroos P, Chernos J. E, & Argiropoulos B. A Challenging Prenatal QF-PCR Rapid Aneuploidy Test Result Caused by a Maternally Inherited Triplication within Chromosome Xq26. Cytogenetic and genome research, 156(1), 5-8. 2018 December.
  2. Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China. Zhu, Y N, Lu S M, Wang M, Shen F X, Chen Y, & Hu J J. Genetics and Molecular Research. 2015 March 6.
  3. Scott P, Podemski L, Baptista Wyatt K, Walker C, Haase S M, Elyas B G, ... & Hume S L. Toward Optimal Detection of the Common Prenatal Aneuploidies by Quantitative Fluorescent–Polymerase Chain Reaction: Comparison of Two Commercial Assays. Genetic testing and molecular biomarkers. 2012 August 16.
  4. Cho E H, Park B Y N, Kang Y S, & Lee E H. Validation of QF–PCR in a Korean population. Prenatal diagnosis. 2009 March 24.

Ordering Information

Kit NameDescriptionPlatformCatalogue Code

Elucigene QST*Rplusv2 Kit - 50 T,
IVD-CE

QST*Rplusv2 is a highly multiplexed single tube assay. It comprises a total of 22 markers for chromosomes 13,18, 21, X and Y and will detect the most common viableautosomal trisomies and sex chromosome aneuploidies.

Genetic Analyser

AN0PLB2

Elucigene QST*R Kit

QST*R is a highly multiplexed single tube assay comprisinga total of 16 markers for the detection of the 3 most common viable autosomal trisomies (13, 18 and 21).

Genetic Analyser

AN003B2

Elucigene QST*R-PL Pregnancy Loss Kit

Detects trisomies of chromosome 13, 15, 16, 18, 21, 22, X and Y.

Genetic Analyser

AN6XYB1

Elucigene QST*R-13 Kit

QST*R-13 detects additional chromosome 13 specificmarkers to supplement QST*R and QST*Rplusv2 if required.

Genetic Analyser

AN013BX

Elucigene QST*R-18 Kit

QST*R-18 detects additional chromosome 18 specificmarkers to supplement QST*R and QST*Rplusv2 if required.

Genetic Analyser

AN018BX

Elucigene QST*R-21 Kit

QST*R-21 detects additional chromosome 21 specificmarkers to supplement QST*R and QST*Rplusv2 if required.

Genetic Analyser

AN021BX

Elucigene QST*RXYv2 Kit

QST*R-XYv2 comprises a total of 12 markers for boththe X and Y chromosomes. It can be used to detect sexchromosome aneuploidies.

Genetic Analyser

AN0XYB2

Elucigene QST*R21

Reflex testing for chromosome 21 – 7 STR markers in total.

Genetic Analyser

AN021BX

Elucigene QST*R/ QST*R-XYv2 Kit

A bundled product comprising one QST*R kit and one QST*R-XYv2 kit.

Genetic Analyser

AN3XYB2

 

Elucigene kits are developed and manufactured within quality systems accredited to ISO9001:2008 and ISO13485:2003 and are validated as in vitro diagnostic devices in compliance with the European Community Directive 98/79/EC and the Canadian Medical Device Regulations (CMDR). Elucigene is a trademark of Delta Diagnostics (UK) Ltd. ARMS is a trademark of AstraZeneca UK Ltd. GeneMarker® is a trademark of SoftGenetics Corporation. GeneMapper™ is a trademark Thermo Fisher Scientific. VIC, PET and NED are trademarks of Life Technologies Corporation.

Licensee Kits: This product is sold pursuant to an agreement with Life Technologies Corporation. The purchase of this product conveys to the buyer the non-transferable right to use only the purchased amount of the product and its components only for human in vitro diagnostics, solely for the clinical indication described in the accompanying instructions for use. For information on obtaining rights to use this product or its components, please contact This email address is being protected from spambots. You need JavaScript enabled to view it..