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Genetics diseases

Pharmacogenetics

UGT1A1 Real Time (FRET) Plus

  • AA1768/24A

The kit allows the detection and identification of five allelic variants of the UGT1A1 gene associated with severe toxicity following administration of irinotecan, a drug used in cancer treatment. Furthermore, these same variants are associated with altered bilirubin metabolism in Gilbert’s syndrome. Protocol applicable on the OMNIA system for extraction and PCR set-up.
Detected variants: *1, *28, *36, *37, *6

Interpretive software: Real-PHARMA (DO041)
Full automation: sistema OMNIA
  • Real Time
  • 24
    test
  • CE IVDR
Brochure

UGT1A1 Real time (FRET)

  • AA1628/24A

The kit allows the identification of three 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

Interpretive software: Real-PHARMA (DO041)
Full automation: sistema OMNIA
  • Real Time
  • 24
    test
  • CE IVD
Brochure

DPYD Real Time (FRET)

  • AA1579/48A

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

Interpretive software: Real-PHARMA (DO041)
Full automation: sistema OMNIA
  • Real Time
  • 48
    test
  • CE IVD
Brochure

DPYD

DPYD Real Time (FRET)

  • AA1579/48A

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

Interpretive software: Real-PHARMA (DO041)
Full automation: sistema OMNIA
  • Real Time
  • 48
    test
  • CE IVD
Brochure

UGT1A1

UGT1A1 Real Time (FRET) Plus

  • AA1768/24A

The kit allows the detection and identification of five allelic variants of the UGT1A1 gene associated with severe toxicity following administration of irinotecan, a drug used in cancer treatment. Furthermore, these same variants are associated with altered bilirubin metabolism in Gilbert’s syndrome. Protocol applicable on the OMNIA system for extraction and PCR set-up.
Detected variants: *1, *28, *36, *37, *6

Interpretive software: Real-PHARMA (DO041)
Full automation: sistema OMNIA
  • Real Time
  • 24
    test
  • CE IVDR
Brochure

UGT1A1 Real time (FRET)

  • AA1628/24A

The kit allows the identification of three 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

Interpretive software: Real-PHARMA (DO041)
Full automation: sistema OMNIA
  • Real Time
  • 24
    test
  • CE IVD
Brochure

Cystic fibrosis

CF FAST Plus

  • AA1413/48A

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.

Interpretive software: Genetic Fragment Analyzer (DO021/A)
Full automation: sistema OMNIA
  • PCR + AF
  • 48
    test
  • CE IVD
Brochure

CF Fast

  • AA1358/48A

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.

Interpretive software: Genetic Fragment Analyzer (DO021/A)
Full automation: sistema OMNIA
  • PCR + AF
  • 48
    test
  • CE IVD
Brochure

CF del

  • AC033

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.

  • RDB
  • 25
    test
  • CE IVD

CF Plus

  • AC089

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.

  • RDB
  • 25
    test
  • CE IVD

Cystic fibrosis

  • 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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 25
    test
  • CE IVD

RDB

CF del

  • AC033

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.

  • RDB
  • 25
    test
  • CE IVD

CF Plus

  • AC089

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.

  • RDB
  • 25
    test
  • CE IVD

Cystic fibrosis

  • 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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 25
    test
  • CE IVD

Fragment Analysis

CF FAST Plus

  • AA1413/48A

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.

Interpretive software: Genetic Fragment Analyzer (DO021/A)
Full automation: sistema OMNIA
  • PCR + AF
  • 48
    test
  • CE IVD
Brochure

CF Fast

  • AA1358/48A

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.

Interpretive software: Genetic Fragment Analyzer (DO021/A)
Full automation: sistema OMNIA
  • PCR + AF
  • 48
    test
  • CE IVD
Brochure

Thalassemias

Beta Globin Plus Test

  • AC104

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.

  • RDB
  • 20
    test
  • CE IVD
Brochure

Beta Globin Test

  • AC091

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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 20
    test
  • CE IVD
Brochure

Alpha Globin Test

  • AC099

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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 10
    test
  • CE IVD
Brochure

Alfa thalassemia

Alpha Globin Test

  • AC099

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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 10
    test
  • CE IVD
Brochure

Beta thalassemia

Beta Globin Plus Test

  • AC104

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.

  • RDB
  • 20
    test
  • CE IVD
Brochure

Beta Globin Test

  • AC091

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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 20
    test
  • CE IVD
Brochure

Hemochromatosis

HFE 3 mutations

  • AC062

The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene, through Reverse Dot Blot (RDB) hybridization strip assay.

  • RDB
  • 25
    test
  • CE IVD

Hemochromatosis 15 mutations

  • AC066

The kit allows the identification of 15 polymorphisms in the HFE, TFR2 and FPN1 genes.

Mutations:

  • E60X, M172K, Y250X (gene TFR2)
  • N144H, V162del (gene FPN1)
  • V53M, V59M, H63H, H63D, S65C, C282Y, Q283P, E168Q, E168X, W169X (gene HFE)
  • RDB
  • 25
    test
  • CE IVD

Hemochromatosis HFE-C282Y Real Time (FRET)

  • AA979

The kit allows the identification of the C282Y mutation in HFE gene through melting curve analysis.

  • Real Time
  • 50
    test
  • CE IVD

Hemochromatosis HFE-H63D HFE-S65C Real Time (FRET)

  • AA978

The kit allows the identification of the H63D and S65C mutations in HFE gene through melting curve analysis.

  • Real Time
  • 25
    test
  • CE IVD

Hemochromatosis H63D – C282Y – S65C Real Time

  • AA1493/50A

The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 50
    test
  • CE IVD

Real Time

Hemochromatosis HFE-C282Y Real Time (FRET)

  • AA979

The kit allows the identification of the C282Y mutation in HFE gene through melting curve analysis.

  • Real Time
  • 50
    test
  • CE IVD

Hemochromatosis HFE-H63D HFE-S65C Real Time (FRET)

  • AA978

The kit allows the identification of the H63D and S65C mutations in HFE gene through melting curve analysis.

  • Real Time
  • 25
    test
  • CE IVD

Hemochromatosis H63D – C282Y – S65C Real Time

  • AA1493/50A

The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 50
    test
  • CE IVD

RDB

HFE 3 mutations

  • AC062

The kit allows the identification of the H63D, S65C and C282Y mutations in HFE gene, through Reverse Dot Blot (RDB) hybridization strip assay.

  • RDB
  • 25
    test
  • CE IVD

Hemochromatosis 15 mutations

  • AC066

The kit allows the identification of 15 polymorphisms in the HFE, TFR2 and FPN1 genes.

Mutations:

  • E60X, M172K, Y250X (gene TFR2)
  • N144H, V162del (gene FPN1)
  • V53M, V59M, H63H, H63D, S65C, C282Y, Q283P, E168Q, E168X, W169X (gene HFE)
  • RDB
  • 25
    test
  • CE IVD

Coagulation

Alpha Globin Test

  • AC099

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.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 10
    test
  • CE IVD
Brochure

CVD-14

  • AC084

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

  • RDB
  • 20
    test
  • CE IVD

Screening test for thrombophilic disease 7 mutations

  • AC034

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

  • RDB
  • 25
    test
  • CE IVD

Screening test for thrombophilic disease 3 mutations

  • AC082

The kit allows the identification of 3 mutations involved in thrombophilic diseases.
Targets:
– Factor V G1691A
– Factor II G20210A
– MTHFR C677T

  • RDB
  • 25
    test
  • CE IVD

Fattore V (H1299R) Real Time FRET

  • AA933

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.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 50
    test
  • CE IVD

PAI 1 (4G/5G) Real Time FRET

  • AA1034

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.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 25
    test
  • CE IVD

PAI 1 (4G/5G) Real Time FRET

  • AA1034/25A

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.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD

MTHFR (A1298C) Real Time FRET

  • AA902

The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 25
    test
  • CE IVD
Brochure

MTHFR (A1298C) Real Time (FRET)

  • AA902/25A

The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD
Brochure

MTHFR (C677T) Real Time FRET

  • AA901

The kit allows the identification of the C677T mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 25
    test
  • CE IVD

Multiplex Real Time

CVD-6 Multiplex Real Time

  • AA1397/48

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

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 48
    test
  • CE IVD
Brochure

Factor II

Factor II (G20210A) Real Time (FRET)

  • AA831

The kit allows the identification of the G20210A mutation in Factor II or prothrombin, through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 50
    test
  • CE IVD

Factor II (G20210A) Real Time (FRET)

  • AA831/50A

The kit allows the identification of the G20210A mutation in Factor II or prothrombin, through melting curve analysis.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 50
    test
  • CE IVD
Brochure

Factor V

Factor V (G1691A) Real Time FRET

  • AA832

The kit allows the identification of the Factor V Leiden, caused by the mutation G1691A (R506Q) in Factor V, through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 50
    test
  • CE IVD

FACTOR V (G1691A) Real Time (FRET)

  • AA832/50A

The kit allows the identification of the Factor V Leiden, caused by the mutation G1691A (R506Q) in Factor V, through melting curve analysis.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 50
    test
  • CE IVD
Brochure

MTHFR (C677T)

MTHFR (C677T) Real Time FRET

  • AA901

The kit allows the identification of the C677T mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 25
    test
  • CE IVD

MTHFR (C677T) Real Time (FRET)

  • AA901/25A

The kit allows the identification of the C677T mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD
Brochure

MTHFR (A1298C)

MTHFR (A1298C) Real Time FRET

  • AA902

The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 25
    test
  • CE IVD
Brochure

MTHFR (A1298C) Real Time (FRET)

  • AA902/25A

The kit allows the identification of the A1298C mutation in MTHFR gene (methylenetetrahydrofolate reductase), through melting curve analysis.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD
Brochure

PAI 1

PAI 1 (4G/5G) Real Time FRET

  • AA1034

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.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 25
    test
  • CE IVD

PAI 1 (4G/5G) Real Time FRET

  • AA1034/25A

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.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD

Fattore V (H1299R)

Fattore V (H1299R) Real Time FRET

  • AA933

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.

Interpretive software: Real Gene (DO022)
  • Real Time
  • 50
    test
  • CE IVD

Multiplex RDB

CVD-14

  • AC084

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

  • RDB
  • 20
    test
  • CE IVD

Screening test for thrombophilic disease 7 mutations

  • AC034

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

  • RDB
  • 25
    test
  • CE IVD

Screening test for thrombophilic disease 3 mutations

  • AC082

The kit allows the identification of 3 mutations involved in thrombophilic diseases.
Targets:
– Factor V G1691A
– Factor II G20210A
– MTHFR C677T

  • RDB
  • 25
    test
  • CE IVD

Genetic predispositions

CeLia-Type Strip Assay

  • AC083

The kit allows the identification of the predisposing haplotypes to Coeliac Disease through Reverse Dot Blot.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 25
    test
  • CE IVD

Celiac disease

CeLia-Type Strip Assay

  • AC083

The kit allows the identification of the predisposing haplotypes to Coeliac Disease through Reverse Dot Blot.

Interpretive software: Marker Detection (DO018)
  • RDB
  • 25
    test
  • CE IVD

Others

CBS Genotipo

  • AA1037

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.

  • Gel
  • 20
    test
  • CE IVD

ApoE Real Time (FRET)

  • AA1524/25A

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.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD

ApoE

ApoE Real Time (FRET)

  • AA1524/25A

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.

Interpretive software: Real Gene (DO022)
Full automation: sistema OMNIA
  • Real Time
  • 25
    test
  • CE IVD

CBS

CBS Genotipo

  • AA1037

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.

  • Gel
  • 20
    test
  • CE IVD

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in accordance with current Decree of the Italian Ministry of Health of 26 January 2023 and guidelines of the Italian Ministry of Health.