Molekulardiagnostik

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.

Adellgene Fragile X Screening is a diagnostic kit designed for use in 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.

Adellgene Huntington Disease (HD) is an in vitro diagnostic kit designed for use in clinical laboratories. The kit detects the number of repetitions of the CAG (cytosine-adenine-guanine) triplet, located on exon 1 of the IT15 gene (HTT), which can result in the formation of Huntington’s disease, also called Huntington’s Chorea. It aims to aid the clinical diagnosis associated with Huntington’s chorea, such as: subtle changes in coordination, involuntary minor movements, difficulty mentally planning, and often a depressed or irritable mood.

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.

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.