Molekulardiagnostik

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.

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.

Genvinset® HLA B57v5 is an in vitro diagnostic kit for the determination of the HLA-B*57:01 allele in genomic DNA extracted from whole blood, associated with abacavir hypersensitivity reaction, by real-time PCR using Taqman® probes technology.

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.

Genvinset® Lactose Intolerance is a semi-automated in vitro diagnostic kit for the qualitative detection of the polymorphisms -13910 C/T (NCBI dbSNP rs4988235; NM_005915.6: c.1917+326C>T) and -22018 G/A (NCBI dbSNP rs182549; NM_005915.5: c.1362+117G>A) of the MCM6 gene (OMIM: 601806) associated with lactase persistence, in genomic DNA extracted from whole blood, by Real Time PCR using specific TaqMan® probes technology.