Molecular Diagnostics – Genetic Diseases

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Order-No. Product name Tests/Size Intended use Quote Request
GVS-C282Y-48
Genvinset® HFE C282Y
48
Genvinset® Detection of HFE mutations associated to hereditary hemochromatosis

Manuals

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GVS-H63D-48
Genvinset® HFE H63D
48
Genvinset® Detection of HFE mutations associated to hereditary hemochromatosis

Manuals

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GVS-S65C-48
Genvinset® HFE S65C
48
Genvinset® Detection of HFE mutations associated to hereditary hemochromatosis

Manuals

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GVS-B2704-48
GENVINSET HLA B27 v4
48
Kit for allele detection in the HLA-B27 group

Manuals

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GVS-DQ-48
Genvinset® HLA Celiac
48
Kit for the detection of HLA-DQB1*02, DQB1*03:02, DQA1*05 alleles associated to Celiac Disease.

Manuals

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GVS-A29-24
Genvinset® HLA-A29
24
Kit for the detection of HLA A*29 group of alleles associated with Birdshot Retinochoroidopathy.

Manuals

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GVS-B5703-48
Genvinset® HLA 57v3
48
Kit for the detection of HLA-B*57:01 allele for pharmacological treatment

Manuals

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GVS-B5-48
Genvinset® HLA Behçet Disease
48
Kit for the detection of HLA-B*51 & B52 groups of alleles associated to Behçet Disease

Manuals

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GVS-NP-24
Genvinset® HLA Narcolepsy
24
Kit for the detection of HLADQB1*06:02 group of alleles associated to Narcolepsy

Manuals

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GVS-FII-48
Genvinset® Factor II G20210A
48
Kit for the detection of Factor II G20210A

Manuals

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GVS-FV-48
Genvinset® Factor V G1691A
48
Kit for the detection of Factor V G1691A

Manuals

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GVS-MTHFR-48
Genvinset® MTHFR C677T
48
Kit for the detection of MTHFR C677T

Manuals

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GVS-IL28B-48
Genvinset® IL28B
48
Kit for the detection of IL28B

Manuals

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AD-FX-48
Adellgene® Fragile X Screening
48
PCR amplification/fluorescent fragment analysis of the FMR1 CGG triplet repeat region (healthy and premutated alleles: 10 to 200 CGG triplet repeats) by capillary electrophoresis in genetic analyzer

Manuals

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AD-FMR1-100
Adellgene® FMR1
100
Kit for the determination of healthy, premutated and mutant alleles in the FMR1 gene by fluorescent fragment analysis

Manuals

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AD-HD-16
Adellgene® Huntington Disease
16
Kit for the determination of the number of CAG triplets of the HD gene

Manuals

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AD-MD-16
Adellgene® Myotonic Dystrophy Screening Kit
16
Adellgene® Myotonic Dystrophy Screening is a kit designed for use in clinical laboratories which detects the number of repetitions of CTG of 3´UTR region of the DMPK gene located in chromosome 19 resulting in Myotonic Dystrophy disease. It aims to aid clinical diagnosis associated with clinical findings in myotonic dystrophy type 1 (DM1) that span from mild to severe symptoms.

Manuals

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AD-MD-C-16
Adellgene® Myotonic Dystrophy Confirmatory Kit
16
Adellgene® Myotonic Dystrophy Confirmatory is a kit designed for use in clinical laboratories which detects the number of repetitions of CTG of 3´UTR region of the DMPK gene located in chromosome 19 resulting in Myotonic Dystrophy disease. It aims to aid clinical diagnosis associated with clinical findings in myotonic dystrophy type 1 (DM1) that span from mild to severe symptoms.

Manuals

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AD-FA-16
Adellgene® Friedrich’s Ataxia
16
Kit for the determination of the number of repeats of GAA of the FXN gene (Friedrich´s Ataxia)

Manuals

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9193
DiabeGen Step II
12
Molecular biology kit for the high resolution determination of HLA class II alleles DRB1*04 and DQB1*06: 02 as part of the predisposition to type I diabetes mellitus.

Manuals

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9192
DiabeGen I° step.
12
Molecular biology kit for predisposition to type I diabetes mellitus.

Manuals

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AC091
Beta Globin Test.(Reverse Dot Blot)
20
Kit for the identification of 25 mutations of beta-globin gene (HBB), involved in type beta thalassemia

Manuals

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AC099
Alpha Blobin Test, (Reverse Dot Blot)
10
Kit for the identification of 22 alterations of alpha-globin gene, involved in alpha type thalassemia

Manuals

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AC104
Beta Globin Plus Test, (Reverse Dot Blot)
20
Kit for the identification of the α-Globin Gene Triplications (anti 3.7) and 14 mutations/deletions of beta-globin gene (HBB)

Manuals

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AA1034
PAI-1 (4G/5G) REAL TIME
25
Kit for the genotyping of Plasminogen activator inhibitor-1 (PAI-1) sequence gene, which includes polymorphisms of type insertion/deletion of one G (4G/5G). This polymorphism is in the promoter region of gene and is involved in arterial and deep venous thrombosis

Manuals

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AA1397/48
CVD-6 Mutliplex Real time
48
Kit for the genotyping of six simultaneous mutations and polymorphisms involved in deep arterial and venous thrombosis: Factor V G1691A, Factor V H1299R, Factor II G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G

Manuals

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AC089
CF PLUS, (Reverse Dot Blot)
25
Kit for the identification of 22 variants in the gene CFTR (Cystic Fibrosis Transmembrane Conductance Regul. through the amplification of target sequences, reverse-hybridization and color development

Manuals

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AC033
CF Del, (Reverse Dot Blot)
25
Kit for the simultaneous detection of themacrodeletions: Ex 2 del; Ex 1 indel; 22,23,24 del; 22,23 del; 2,3 del; 17a,17b,18 del – also named 3120+1kb del (8,6 kb); 14b-17b del. involved in Cystic Fibrosis, 25 tests

Manuals

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AC023/25
Cystic fibrosis, (Reverse Dot Blot)
25
Kit for the identification of variants in the gene CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)

Manuals

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AC034
Screening Test Thrombophilic Disease 7 mutations, (Reverse Dot Blot)
25
Kit for the identification of gene mutations involved in thrombophilc diseases (Factor V R506Q, H1299R, Y1702C; Factor II G20210A; MTHFR C677T, A1298C; PAI-1 4G/5G)

Manuals

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AC082
Screening Test Thrombophilic Disease 3 mutations; Reverse Dot Blot
25
Kit for the identification of Factor V G1691A, Factor II G20210A; MTHFR C677T)

Manuals

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AA1302/25
CARIO 5 TYPE. Real time PCR
25
Kit for the characterization of Chromosomal aneuploidies 13, 18, 21, X, Y

Manuals

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AC084
CVD 14 (Reverse Dot Blot)
25
Kit for the identification of the Factor V R506Q and H1299R, Factor II G20210A, MTHFR C677T and A1298C, CBS 844ins68, PAI-1, ACE, AGT, GPIIIa HPA-1 a/b, ATR-1, β– fibrinogen and Factor XIII) involved in arterial and deep venous thrombosis

Manuals

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AA1524/25A
APOE REAL TIME PCR
25
Kit for the analysis of the two polymorphisms (T334C and C472T)

Manuals

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