MOLECULAR DIAGNOSTICS Molecular Diagnostics A stratified approach to diagnostics

Molecular Diagnostic Solutions from Randox Introduction Randox has over 30 years experience in the development, manufacture and marketing of high quality clinical diagnostic tests and equipment. We supply over 60,000 laboratories in over 130 countries and are the sixth largest manufacturer of clinical chemistry reagents in the world. We are also the fourth largest manufacturer of quality controls and calibrators. Research and development is paramount within Randox as it allows us to continuously improve the standard of diagnostic materials produced. This ensures our products are the most technologically...

SNP Genotyping Rapid multiplex SNP genotyping is based on innovative primer design which can discriminate DNA sequences which differ only at one base. Products amplified will correspond to target portions of DNA from tissue, buccal swabs or blood. Amplified regions are then hybridised to a biochip array with spatially tethered probes complementary to target amplicons. Each position on the biochip array corresponds to a specific SNP genotype and is capable of both multiplexing and determining the zygosity of the sample. Gene Expression Individual genes are differentially expressed according to...

Cardiac Risk Prediction Array Simultaneous genotyping of 20 SNPs for a reliable CHD risk assessment Introduction Coronary Heart Disease (CHD) is the leading cause of death in the developed world and its prevention is a core activity in general practice worldwide. For example, clinical guidelines from the Joint Cardiac Societies and NICE in the UK recommend that patients at greater than 20% risk of CHD in the next ten years should be classified as high risk and considered for intensive lifestyle intervention and lipid lowering therapy,1 primarily the prescription of statins. Current CHD risk assessment...

Response to statin treatment A further important SNP which can predict response to particular statin therapies has been included in the array. Individuals who are homozygous (frequency =0.13) for the risk allele are 17 times more likely to suffer from statin-induced myopathy when treated with high doses of simvastatin.8 Identifying patients with a higher risk of suffering statin-induced myopathy would allow clinicians to make more informed decisions when prescribing lipid lowering therapies. Cardiac Risk Prediction Array Protocol Step 1 Extraction Genomic DNA extracted from blood/saliva Accurate...

Familial Hypercholesterolemia (FH) I & II Arrays Rapid, simultaneous detection of 40 mutations within the LDLR, ApoB and PCSK9 genes Introduction Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism. It is a common autosomal dominant, or inherited, disease which affects the plasma clearance of LDL-cholesterol (LDL-C), resulting in premature onset of cardiovascular disease (CVD) and a higher mortality risk.1-3 FH Array I Analyte Name Analyte Name Common genetic defects in FH are mutations in three genes encoding proteins involved in the uptake of LDL-C from the plasma:...

Clinical data Several validation studies were completed using FH samples, with both blinded and un-blinded samples assessed. Total correlation of 98% was observed when using the Familial Hypercholesterolemia Arrays I & II. Principle of the Familial Hypercholesterolemia (FH) Arrays I & II The Randox Familial Hypercholesterolemia Arrays I & II are based on a combination of multiplex PCR and biochip array hybridisation. Innovative PCR priming technology permits high discrimination between multiple wildtype and mutant DNA regions in a number of genes. A unique primer set is designed for each mutation...

KRAS, BRAF, PIK3CA* Array Rapid profiling of point mutations in the KRAS, BRAF and PIK3CA genes Introduction Colorectal cancer (CRC) is the third most common cancer worldwide.1 Metastatic disease accounts for 40-50% of newly diagnosed patients and is associated with high morbidity.1,2 Despite recent therapeutic advances, the prognosis for patients with metastatic CRC (mCRC) remains poor.3 In recent years monoclonal antibodies (moAbs), like cetuximab and panitumumab which target the epidermal growth factor receptor (EGFR), have proven to be effective in combination with chemotherapy or as single...

Why test the KRAS, BRAF, and PIK3CA genes? Early studies conducted on mainly heavily pre-treated chemotherapy-refractory patients and also chemotherapy-naive patients with mCRC indicated that only 10-20% of patients clinically benefited from anti-EGFR moAbs.5,6 Consequently oncogenic activation of EGFR downstream effectors was investigated with respect to clinical outcome to moAb therapy. Analysis confirmed that patients with mCRC carrying activating KRAS gene mutations do not benefit from anti-EGFR moAb therapy.7,8 KRAS mutations have since emerged as the major negative predictor of efficacy...

Respiratory Multiplex Array Rapid, simultaneous detection of 22 bacterial and viral respiratory pathogens Introduction The Respiratory Multiplex Array is intended for the simultaneous detection of 22 respiratory pathogens in individuals suspected of Respiratory Tract Infections (RTIs). The ability to simultaneously detect up to 15 respiratory viruses and 7 respiratory bacterial pathogens in one sample provides clinicians with a comprehensive patient profile, enabling faster and more appropriate treatment decisions when they matter most. The Respiratory Multiplex Array is based on a combination...

Why use the Respiratory Multiplex Array? The ability to simultaneously identify the most prevalent pathogens, both viral and bacterial, will provide a rapid and more cost-effective diagnostic tool than current tests that only look for single pathogens. This greatly benefits the patient as it reduces the time from presentation to treatment and minimises sample requirements. It also benefits healthcare systems as correct and timely treatment will reduce bed stays and may improve antibiotic usage. The Respiratory Multiplex Array offers these advantages providing clinicians with a more complete infection...