Molecular Diagnostics

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 a semi-automated in vitro diagnostic Real-Time PCR kit intended for the qualitative detection of HLA-DQB102, HLA-DQB103:02 and HLA-DQA105 alleles in genomic DNA extracted from whole blood. Detection of these alleles enables determination of the HLA-DQ2 and HLA-DQ8 antigens associated with genetic predisposition to celiac disease. The assay also determines homozygous or heterozygous status for HLA-DQB102 alleles and uses TaqMan® probe-based Real-Time PCR technology.

Genvinset® HLA A29 is a semi-automated in vitro diagnostic kit intended for the qualitative detection of the HLA-A*29 group of alleles in genomic DNA extracted from whole blood. The assay is intended to support assessment of genetic predisposition associated with Birdshot retinochoroidopathy and is based on Real-Time PCR using TaqMan® probe technology.

Genvinset® HLA Narcolepsy is a semi-automated in vitro diagnostic kit intended for the qualitative detection of the HLA-DQB1*06:02 group of alleles in genomic DNA extracted from whole blood. The assay supports assessment of genetic predisposition associated with narcolepsy and is based on Real-Time PCR using TaqMan® probe technology. Results should be used as an aid in diagnosis together with clinical information and other relevant diagnostic markers.

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.