Molecular Diagnostics

Genvinset® HLA Narcolepsy is an in vitro diagnostic kit for determination of the HLA-DQB1*06:02 group of alleles in genomic DNA extracted from whole blood, associated with narcolepsy predisposition, by real-time PCR using TaqMan® probes technology.

Genvinset® HFE H63D is an in vitro diagnostic kit for the qualitative detection of the H63D mutation (NCBI dbSNP rs1799945; NM_000410.4:c.187C>G), in the HFE gene (OMIM: 613609) associated with hereditary hemochromatosis, in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.

Genvinset® HFE S65C is an in vitro diagnostic kit for the qualitative detection of the S65C mutation (NCBI dbSNP rs1800730; NM_000410.4:c.193A>T), 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.

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.

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.

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.

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.

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.

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.

Genvinset® HLA B27v5 is an in vitro diagnostic kit for HLA-B*27 group of alleles determination in genomic DNA extracted from whole blood, associated with ankylosing spondylitis predisposition, by real-time PCR using Taqman® probes technology.