Molecular Diagnostics

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.

Adellgene Friedreich’s Ataxia is a kit for In Vitro Diagnostic designed for detecting the number of repetitions of GAA in the first intron of the gene encoding frataxin (FXN) gene located in chromosome 9 resulting in Friedreich’s ataxia disease. It aims to aid clinical diagnosis associated with clinical findings in Friedreich’s ataxia that span from mild to severe symptoms.

Genvinset® HLA CELIAC is an in vitro diagnostic kit designed for the detection of the HLA-DQB1*02, DQB1*03:02 and DQA1*05 alleles in genomic DNA extracted from whole blood, and the consequent determina­tion of the DQ2 and DQ8 antigens, associated with celiac disease predisposition. 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 A29 is an in vitro diagnostic kit for the determination of the HLA-A*29 group of alleles in genomic DNA extracted from whole blood, associated with Birdshot retinochoroidopathy predisposition, by real-time PCR using Taqman® probes technology.

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.