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Variations in the CYP2C19 gene lead to inappropriate concentrations of drugs or drug metabolites in the body, which may lead to toxicity, risk of adverse drug reactions or impaired drug efficacy. The PGX-CYP2C19 StripAssay® detects genetic variants resulting in reduced or increased activity of the cytochrome P450 isoenzyme CYP2C19. This assay detects CYP2C19 variants *2, *3, *4, *5, *6, *7, *8, and *17.
Differences in the activity of the liver enzyme CYP2D6 contribute to the inter-individual variability in a majority of drug responses. An assay for the identification of CYP2D6 variants *3, *4, and *6 based on polymerase chain reaction (PCR) and reverse-hybridization.
Highly active retroviral therapy (HAART) is a very effective treatment for HIV-positive patients. Allelic variants of certain proteins have been associated with successful HAART. The PGX-HIV StripAssay® identifies variants in genes known to be relevant for effective HAART.
Oral anticoagulants like coumarins are commonly prescribed to prevent and treat thromboembolic disorders. Genetic variants have been shown to have a clinical impact on the safety and efficacy of oral anticoagulation dosing. PGX-Thrombo assay identifies the most relevant genetic variants for appropriate coumarin (e.g. warfarin) dosing. This assay tests for CYP2C9 and VKORC1 variants associated with anticoagulant dose requirements (Coumadin®, Marcumar®, Sintrom®)
Thiopurine-based therapeutic drugs may accumulate to toxic levels in patients carrying genetic variants of the drug-metabolizing enzyme TPMT. The PGX-TPMT StripAssay® identifies the most frequent TPMT variants of therapeutic relevance. This assay tests TPMT variants *2, *3A, *3B, and *3C associated with response to thiopurine therapy.
Mutations in the alpha- and beta-globin genes lead to reduced or abolished globin-chain synthesis or cause structurally abnormal hemoglobin. The β-Thal Modifier StripAssay® identifies co-inherited variants known to ameliorate severity of beta-thalassemia. An Assay for the identification of 5 polymorphisms associated with severity of β-thalassemia based on polymerase chain reaction (PCR) and reverse-hybridization.
Cystic Fibrosis (CF) is the most prevalent life-limiting autosomal recessive disorder in the Caucasian population. We offer population-tailored CF StripAssays® including 34 common CFTR mutations and the IVS8 variants 5T/7T/9T. An assay for the identification of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations based on polymerase chain reaction (PCR) and reverse-hybridization.
Thalassemias are characterized by inherited defective hemoglobin synthesis leading to microcytic, hemolytic anemias. The clinical heterogeneity ranges from asymptomatic to very severe forms requiring regular blood transfusions. α-Globin StripAssay® detects common thalassemia-causing genetic variants worldwide. An assay for the identification of 21 common α-globin gene mutations based on polymerase chain reaction
(PCR) and reverse-hybridization.
Lactose intolerance is a frequent autosomal recessive condition causing diarrhea, nausea, and flatulence. The disease is strongly associated with genetic variants regulating the expression of the lactase (LCT) gene. An assay for the identification of two lactase genes, polymorphisms -13910T>C and -22018A>G, associated with hereditary lactose intolerance based on polymerase chain reaction (PCR) and reverse-hybridization.
Hereditary fructose intolerance is an autosomal recessive disorder caused by variants of the aldolase B (ALDOB) gene. Affected subjects suffer from abdominal pain, vomiting, hypoglycemia, and unless fructose-containing food is strictly avoided may even die from organ damage. The Sugar Intolerance StripAssay identifies two lactase gene polymorphisms and four aldolase B gene mutations associated with hereditary lactose or fructose intolerance based on polymerase chain reaction (PCR) and reverse-hybridization.
Congenital adrenal hyperplasia (CAH) is an inherited disorder affecting steroid hormone synthesis. The CAH StripAssay® detects the most common point mutations. An Assay for the identification of eleven CYP21A2 mutations associated with Congenital Adrenal Hyperplasia (CAH) based on polymerase chain reaction (PCR) and reverse-hybridization.
Familial Mediterranean Fever (FMF) is characterized by recurrent episodes of fever accompanied by painful inflammatory events. The FMF StripAssays® identifies the most frequent disease-causing variants in the MEFV gene and risk factors for amyloidosis. An assay for the identification of 12 MEFV gene mutations based on a polymerase chain reaction (PCR) and reverse-hybridization.
Hereditary haemochromatosis is one of the most prevalent genetic disorders in the Northern European population. It is characterized by the progressive accumulation of iron in various organs. The Haemonchromatosis StripAssay® A identifies 18 mutations: twelve HFE mutations, four TFR2 mutations and, two FPN1 mutations.
Hereditary haemochromatosis (HH) is an inherited iron overload disorder characterized by excessive absorption and deposition of iron. This assay identifies 3 HFE gene mutations: C282Y, H63D, S65C based on polymerase chain reaction (PCR)
and reverse-hybridization.
Gaucher disease, the most common inherited lysosomal storage disorder, is caused by genetic variants in the GBA gene leading to glucocerebrosidase deficiency. The Gaucher Disease StripAssay® identifies the most frequent mutations and recombinant alleles. An assay for the identification of 8 mutations and two recombinant alleles in the glucocerebrosidase (GBA) gene based on polymerase chain reaction (PCR) and reverse-hybridization.
A severe long-term complication is systemic AA amyloidosis, which is characterized by extracellular deposition of proteolytic fragments of serum amyloid A (SAA) ultimately leading to organ damage. The homozygous condition of the SAA isotype SAA1.1 is significantly linked to AA amyloidosis and clinical severity in patients with FMF and rheumatoid arthritis. An assay for the identification of 12 MEFV mutations and SAA1 genotypes 1.1, 1.3, and 1.5. based on polymerase chain reaction (PCR) and reverse-hybridization.
Specific Apolipoprotein E variants have been associated with type III hyperlipoproteinemia (ApoE2), cardiovascular disease, and Alzheimer’s disease (ApoE4). ViennaLab Apo E StripAssay® easily discriminates between the E2, E3, and E4 variants of ApoE. Assay for the identification of apolipoprotein (apo) E isoforms based on polymerase chain reaction (PCR) and reverse-hybridization.
Cardiovascular Diseases (CVD) are often caused by a combination of a genetic predisposition and an unhealthy lifestyle. CVD StripAssay® identifies various combinations of genetic CVD risk factors. This assay tests for 12 genetic variants associated with cardiovascular diseases.
Testing for disease-associated genetic variants in conjunction with an adaptation of lifestyle can greatly contribute to decrease an individual’s CVD risk. An assay for the identification of 8 genetic variants predisposing to atherosclerosis based on polymerase chain reaction (PCR) and reverse-hybridization.
An assay for the identification of mutations associated with cardiovascular disease (CVD) based on polymerase chain reaction (PCR) and reverse-hybridization. It tests for 9 genetic variants predisposing.
An assay for the detection of the factor V gene mutation G1691A (FV Leiden) based on polymerase chain reaction (PCR) and reverse-hybridization.
An assay for the identification of factor V (FV) and prothrombin (PTH) gene mutations based on polymerase chain reaction (PCR) and reverse-hybridization.
Assay for the identification of factor V (FV), prothrombin (PTH), and MTHFR gene mutations based on polymerase chain reaction (PCR) and reverse-hybridization. For human in vitro diagnostics.
An assay for the detection of the MTHFR gene mutation C677T based on polymerase chain reaction (PCR) and reverse-hybridization.
An assay for the detection of the prothrombin gene mutation G20210A based on polymerase chain reaction (PCR) and reverse-hybridization.
HLA-B*27 is a genetic risk factor for seronegative spondyloarthropathies, such as ankylosing spondylitis, reactive arthritis, juvenile rheumatoid arthritis, and anterior uveitis. HLA-B27 StripAssay® detects the majority of currently known HLA-B*27 variants except for some rare alleles. The list of detected alleles can you find here.
Fluoropyrimidines are widely used for the treatment of various solid tumors. The newly launched PGX-5FU XL StripAssay® covers the four most clinically important variants with therapeutic relevance for fluoropyrimidine treatment as recommended by the European Medicines Agency in April 2020.
Click here for more information.
Mutations in the epidermal growth factor receptor (EGFR) gene are predictive of the response to EGFR tyrosine kinase inhibitors (TKIs). The assays identify 30 EGFR mutations relevant for non-small cell lung cancer (NSCLC) TKI therapy. The EGFR XL StripAssay is an assay for the identification of 30 EGFR mutations in exons 18/19/20/21 based on polymerase chain reaction (PCR) and reverse-hybridization.
Germline polymorphisms in the Fc gamma receptor (FCGR) gene have been reported to influence antibody-based cancer therapies. The FCGR StripAssay® identifies the variants FCGR2A-H131R and FCGR3A-F158V. An assay for the analysis of Fc gamma receptor (FCGR) polymorphisms based on polymerase chain reaction (PCR) and reverse-hybridization.
Monoclonal antibody (mAb) therapies targeting epidermal growth factor receptor (EGFR) are used in metastatic colorectal cancer (mCRC) therapies. KRAS StripAssays® identifies the most relevant genetic variants of KRAS genes interfering with treatment/therapy success. An assay for the identification of 10 KRAS mutations in codons 12 and 13 based on polymerase chain reaction (PCR) and reverse-hybridization.
The KRAS-BRAF StripAssay is an assay for the identification of KRAS and BRAF gene mutations based on polymerase chain reaction (PCR) and reverse-hybridization. It has ultra-sensitive detection of 10 KRAS mutations in codons 12/13 and the BRAF V600E mutation.
Monoclonal antibody (mAb) therapies targeting epidermal growth factor receptor (EGFR) are used in metastatic colorectal cancer (mCRC) therapies. KRAS XL StripAssay® identifies the most relevant genetic variants of KRAS genes interfering with treatment/therapy success. An assay for the identification of 29 KRAS mutations in codons 12/13/59/60/ 61/117/146 based on polymerase chain reaction (PCR) and reverse-hybridization.
Monoclonal antibody (mAb) therapies targeting epidermal growth factor receptor (EGFR) are used in metastatic colorectal cancer (mCRC) therapies. NRAS StripAssays® identifies the most relevant genetic variants of NRAS genes interfering with treatment/therapy success. An assay for the identification of 22 NRAS mutations in codons 12/13/59/60/ 61/146 based on polymerase chain reaction (PCR) and reverse-hybridization.
Determination of BRAF V600 mutational status is recommended in metastatic colorectal cancer (mCRC) at the same time as RAS mutational status for prognostic assessment (and/or potential selection for clinical trials). BRAF 600/601 StripAssay is an assay for the identification of 9 BRAF mutations in codons 600 and 601 based on polymerase chain reaction (PCR) and reverse-hybridization.
BRAF gene mutation assessment is indicated in colorectal cancer, advanced non-small-cell lung cancer, melanoma, and thyroid cancer. BRAF StripAssay is an assay for the identification of BRAF p.V600E (c.1799T>A) based on polymerase chain reaction (PCR) and reverse-hybridization.
Thiopurine-based therapeutic drugs may accumulate to toxic levels in patients carrying genetic variants of the drug-metabolizing enzyme TPMT. The PGX-TPMT StripAssay® identifies the most frequent TPMT variants of therapeutic relevance. An assay for the identification of TPMT variants *2, *3A, *3B, and *3C associated with response to thiopurine therapy based on polymerase chain reaction (PCR) and reverse-hybridization.
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