The kit allows the identification of 4 allelic variants of UGT1A1 gene, associated to severe toxicity during the administration of irinotecan, an anti-tumoral drug.
In addition, the same variants are associated to altered metabolism of bilirubin in Gilbert’s syndrome.
Variants:
*1
*28
*36
*37
The kit allows the identification of 5 mutations in DPYD gene associated to clinically relevant adverse event to the chemioterapic agent
Mutations:
c.1905+1G>A
c.1679T>G
c.2846A>T
c.1129–5923C>G (variante in linkage disequilibrium con c.1236G>A)
c.2194G>A
The kit allows the identification of 5 mutations in DPYD gene associated to clinically relevant adverse event to the chemioterapic agent
Mutations:
c.1905+1G>A
c.1679T>G
c.2846A>T
c.1129–5923C>G (variante in linkage disequilibrium con c.1236G>A)
c.2194G>A
The kit allows the identification of 4 allelic variants of UGT1A1 gene, associated to severe toxicity during the administration of irinotecan, an anti-tumoral drug.
In addition, the same variants are associated to altered metabolism of bilirubin in Gilbert’s syndrome.
Variants:
*1
*28
*36
*37
The kit allows the identification of 43 mutations of the gene that encodes for the protein CFTR through Fluorescent ARMS (Amplification Refractory Mutation Detection System) and fragment analysis on an automatic sequencer.
The kit allows the identification of 40 mutations and 5T(TG9-13)-7T-9T allele of the gene that encodes for the protein CFTR through Fluorescent ARMS (Amplification Refractory Mutation Detection System) and fragment analysis on an automatic sequencer.
The kit allows the identification of 7 macrodeletion of the gene that encodes for CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, through Reverse Dot Blot (RDB) hybridization strip assay. The assay is an extension of ref.AC023/25.
The kit allows the identification of 22 mutations of the gene that encodes for CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, through Reverse Dot Blot (RDB) hybridization strip assay. The assay is an extension of ref.AC023/25.
The kit allows the identification of 38 mutations of the gene that encodes for CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 7 macrodeletion of the gene that encodes for CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, through Reverse Dot Blot (RDB) hybridization strip assay. The assay is an extension of ref.AC023/25.
The kit allows the identification of 22 mutations of the gene that encodes for CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, through Reverse Dot Blot (RDB) hybridization strip assay. The assay is an extension of ref.AC023/25.
The kit allows the identification of 38 mutations of the gene that encodes for CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 43 mutations of the gene that encodes for the protein CFTR through Fluorescent ARMS (Amplification Refractory Mutation Detection System) and fragment analysis on an automatic sequencer.
The kit allows the identification of 40 mutations and 5T(TG9-13)-7T-9T allele of the gene that encodes for the protein CFTR through Fluorescent ARMS (Amplification Refractory Mutation Detection System) and fragment analysis on an automatic sequencer.
The kit allows the identification of the triplicate of the gene apha-globin (anti 3.7) and of 14 mutations and deletions of the beta-globin gene, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 25 alterations in the beta-globin gene involved in the beta-talassemia, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 22 alterations in the alpha-globin gene involved in the alpha-talassemia, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 22 alterations in the alpha-globin gene involved in the alpha-talassemia, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of the triplicate of the gene apha-globin (anti 3.7) and of 14 mutations and deletions of the beta-globin gene, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 25 alterations in the beta-globin gene involved in the beta-talassemia, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 15 polymorphisms in the HFE, TFR2 and FPN1 genes.
Mutations:
The kit allows the identification of the C282Y mutation in HFE gene through melting curve analysis.
The kit allows the identification of the H63D and S65C mutations in HFE gene through melting curve analysis.
The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene through melting curve analysis.
The kit allows the identification of the C282Y mutation in HFE gene through melting curve analysis.
The kit allows the identification of the H63D and S65C mutations in HFE gene through melting curve analysis.
The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene through melting curve analysis.
The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of 15 polymorphisms in the HFE, TFR2 and FPN1 genes.
Mutations:
The kit allows the identification of 22 alterations in the alpha-globin gene involved in the alpha-talassemia, through Reverse Dot Blot (RDB) hybridization strip assay.
The kit allows the identification of the main mutations and polymorphisms involved in arterial and venous thrombosis and in the lipid metabolism.
Targets:
– Factor V G1691A
– Factor V H1299R
– Factor II G20210A
– MTHFR C677T
– MTHFR A1298C
– CBS 844ins68 I/D
– PAI-1 4G/5G
– GPIIIa T1565C (HPA-1 a/b)
– ACE I/D
– AGT g.9543T>C (M235T)
– ATR-1 A1166C
– β-fibrinogen -455 G>A
– Factor XIII g.7130G>T (V34L)
– ApoE C112R and R158C
The kit allows the identification of the main mutations involved in thrombophilic diseases.
Targets:
– Factor V G1691A
– Factor V H1299R
– Fattore V Y1702C
– Factor II G20210A
– MTHFR C677T
– MTHFR A1298C
– PAI-1 4G/5G
The kit allows the identification of 3 mutations involved in thrombophilic diseases.
Targets:
– Factor V G1691A
– Factor II G20210A
– MTHFR C677T
The kit allows the identification of the H1299R mutation in Factor V (HR2), through melting curve analysis. The aplotype HR2 leads to an increased risk of thrombosis when in association with FV Leiden.
The kit allows the genotyping of the 4G/5G polymorphisms in the gene that encodes for the protein Plasminogen Activator Inhibitor-1 (PAI-1), through melting curve analysis.
The kit allows the genotyping of the 4G/5G polymorphisms in the gene that encodes for the protein Plasminogen Activator Inhibitor-1 (PAI-1), through melting curve analysis.
The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
The kit allows the identification of the C677T mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
CVD-6 Multiplex Real Time kit allows the detection and identification of 6 different mutations and polymorphisms involved in arterial and venous thrombosis. The kit is based on Real Time PCR technology and melting curve analysis.
Targets:
– Factor V G1691A
– Factor V H1299R
– Factor II G20210A
– MTHFR C677T
– MTHFR A1298C
– PAI-1 4G/5G
The kit allows the identification of the G20210A mutation in Factor II or prothrombin, through melting curve analysis.
The kit allows the identification of the G20210A mutation in Factor II or prothrombin, through melting curve analysis.
The kit allows the identification of the Factor V Leiden, caused by the mutation G1691A (R506Q) in Factor V, through melting curve analysis.
The kit allows the identification of the Factor V Leiden, caused by the mutation G1691A (R506Q) in Factor V, through melting curve analysis.
The kit allows the identification of the C677T mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
The kit allows the identification of the C677T mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.
The kit allows the genotyping of the 4G/5G polymorphisms in the gene that encodes for the protein Plasminogen Activator Inhibitor-1 (PAI-1), through melting curve analysis.
The kit allows the genotyping of the 4G/5G polymorphisms in the gene that encodes for the protein Plasminogen Activator Inhibitor-1 (PAI-1), through melting curve analysis.
The kit allows the identification of the H1299R mutation in Factor V (HR2), through melting curve analysis. The aplotype HR2 leads to an increased risk of thrombosis when in association with FV Leiden.
The kit allows the identification of the main mutations and polymorphisms involved in arterial and venous thrombosis and in the lipid metabolism.
Targets:
– Factor V G1691A
– Factor V H1299R
– Factor II G20210A
– MTHFR C677T
– MTHFR A1298C
– CBS 844ins68 I/D
– PAI-1 4G/5G
– GPIIIa T1565C (HPA-1 a/b)
– ACE I/D
– AGT g.9543T>C (M235T)
– ATR-1 A1166C
– β-fibrinogen -455 G>A
– Factor XIII g.7130G>T (V34L)
– ApoE C112R and R158C
The kit allows the identification of the main mutations involved in thrombophilic diseases.
Targets:
– Factor V G1691A
– Factor V H1299R
– Fattore V Y1702C
– Factor II G20210A
– MTHFR C677T
– MTHFR A1298C
– PAI-1 4G/5G
The kit allows the identification of 3 mutations involved in thrombophilic diseases.
Targets:
– Factor V G1691A
– Factor II G20210A
– MTHFR C677T
The kit allows the identification of the predisposing haplotypes to Coeliac Disease through Reverse Dot Blot.
The kit allows the identification of the predisposing haplotypes to Coeliac Disease through Reverse Dot Blot.
The kit allows the identification of an insertion in exon 8 (844ins68) in the gene that encodes for the protein Cystathionine beta synthase (CBS), whose presence is associated to Hyperhomocysteinemia.
The kit allows the identification of the three isoforms of the protein ApoE (ApoE2, ApoE3 e ApoE4) through the analysis of T334C (rs429358) and C472T (rs7412) polymorphisms.
The kit allows the identification of the three isoforms of the protein ApoE (ApoE2, ApoE3 e ApoE4) through the analysis of T334C (rs429358) and C472T (rs7412) polymorphisms.
The kit allows the identification of an insertion in exon 8 (844ins68) in the gene that encodes for the protein Cystathionine beta synthase (CBS), whose presence is associated to Hyperhomocysteinemia.
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