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.

Monkeypox Virus Nucleic Acid Detection Kit (Fluorescent PCR) is used for the qualitative detection of the monkeypox virus nucleic acid in specimens of lesion surface swabs, lesion exudate or whole blood from suspected cases.

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.