Molekulardiagnostik

kit for the detection of deltaF508 mutation in CFTR gene by real-time PCR technology using TaqMan® probes technology.

Genvinset® HLA DQA1*05 is a semi-automated in vitro diagnostic kit for the qualitative detection of the HLA-DQA1*05 allele in genomic DNA extracted from whole blood, associated with the immunogenicity of anti-TNF drugs, by Real-Time PCR using TaqMan® probes technology.

Kit for detecting HLA-DRB1*03, DRB1*04, DQB1*02:01 and DQB1*03:02 alleles by Real Time PCR using TaqMan® probes technology.

Kit for detecting the HLA-C*06 alleles by Real Time PCR using TaqMan® probes technology.

Kit for the determination of the CAG and CTA/CTG triplet repeats number (SCAs 1, 2, 3, 6, 7 and SCA 8, respectively) by fluorescent fragment analysis.

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.