Human genetic diseases and genetic predispositions
In addition to tests for the detection of “classic” genetic diseases such as muscular dystrophy, fragile X syndrome, Huntington’s disease, cystic fibrosis, etc., the biocore genetic diseases product line includes a large number of tests for the detection of genetic polymorphisms responsible for thrombophilia, cardiovascular diseases, and genetic predispositions, biocore’s genetic diseases product line includes a large number of tests for the detection of genetic polymorphisms responsible for thrombophilia, cardiovascular diseases, diabetes and obesity, as well as tests for the detection of genetic resistance to certain drugs (e.g. anticoagulants, warfarin, antibiotics, antiviral therapy, etc.).
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
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
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.
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.
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.
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
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
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
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
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)
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
