Molekulardiagnostik
- Information:
Genvinset® HFE C282Y is an in vitro diagnostic kit for the qualitative detection of the C282Y mutation (NCBI dbSNP rs1800562; NM_000410.4:c.845G>A), in the HFE gene (OMIM: 613609) associated with primary hemochromatosis, in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
- Information:
Genvinset® Factor II G20210A is a kit for the in vitro qualitative detection of the G20210A mutation (NCBI dbSNP rs1799963; NM_000506.5:c.*97G>A) in the prothrombin (FII) gene (OMIM: 176930) associated with thrombophilia risk in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
- Information:
Genvinset® Factor V G1691A is a kit for the in vitro qualitative detection of the G1691A mutation (NCBI dbSNP rs6025; NM_000130.5:c.1601G>A) in the factor V (FV) gene (OMIM: 612309) associated with thrombophilia risk in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
- Information:
Genvinset® MTHFR C677T is a kit for the in vitro qualitative detection of the C677T polymorphism (NCBI dbSNP rs1801133; NM_001330358.2:c.788C>T) in the Methylene tetrahydrofolate reductase (MTHFR) gene (OMIM: 607093) associated with thrombophilia risk in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
- Information:
Genvinset® MTHFR A1298C is a kit for the in vitro qualitative detection of the A1298C polymorphism (NCBI dbSNP rs1801131; NM_001330358.2:c.1409A>C) in the Methylene tetrahydrofolate reductase (MTHFR) gene (OMIM: 607093) associated with thrombophilia risk in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
- Information:
Adellgene® Fragile X is an in vitro diagnostic kit designed for use in clinical laboratories, which detects the number of CGG triplet repeats (cytosine-guanine-guanine) in the 5’ untranslated region of the gene for fragile X mental retardation (“Fragile X mental retardation-1”: FMR1). It aims to aid diagnosis of the clinical disease associated with Fragile X syndrome, for example, mental retardation, primary ovarian failure, and tremors / ataxia.
- Information:
Genvinset® HLA CELIAC Plus is an in vitro diagnostic kit for the detection of HLA-DQB1*02, DQB1*03:02, DQA1*05 and DQA1*03 alleles in genomic DNA extracted from whole blood, and the consequent determination of DQ2 and DQ8 antigens associated to celiac disease. The kit is able to determine the homozygosity or heterozygosity status for the DQB1*02 alleles. The analysis is based on real-time PCR technology using TaqMan® probes.
- Information:
Genvinset® PAI-1 4G/5G is a kit for the in vitro qualitative detection of the 4G/5G deletion (NCBI dbSNP rs1799762; NM_000602.5:c.-820G[(4_5)]) in the promoter region of the Plasminogen activator inhibitor 1 (SERPINE1) gene (OMIM: 173360) associated with thrombophilia risk, in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.