Blackhills Diagnostic Resources

Kit for the determination of healthy, premutation and mutant alleles in the FMR1 gene by fluorescent fragment analysis

Kit for the determination of healthy and premutation alleles in the FMR1 gene by fluorescent fragment analysis

NGS assay to study 28 genes commonly associated with solid tumor type cancers from circulating cell-free tumor DNA (ccfDNA/cfDNA/ctDNA).

Kit for the determination of the CAG triplet repeats number of the HTT gene by fluorescent fragment analysis

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis

NGS assays associated with solid tumors

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 G20210A mutation of the prothrombin gene by Real Time PCR using TaqMan® probes technology Information about the product Prothrombin (Factor II) is a glycoprotein generated in liver. It is an essential component of the blood-clotting mechanism. The regulation of the prothrombin expression is crucial for the homeostasis maintenance. The G20210A mutation of Factor…

Kit for detecting the G1691A mutation of the Factor V (FV) gene by Real Time PCR using TaqMan® probes technology Information about the product The Factor V Leiden is a variant of the Factor V of human coagulation. It has an important role in the coagulation cascade. The mutation G1691A is the most common hereditary…

Kit for detecting the C282Y mutation of HFE gene by Real Time PCR using TaqMan® probes technology Information about the product Hereditary hemochromatosis (HH) is an autosomal recessive inherited disorder of iron metabolism. Due to excessive intestinal absorption, iron accumulates in the parenchymal cells of the liver, pancreas, heart and other organs resulting in damage to its…

Kit for detecting the S65C mutation of HFE gene by Real Time PCR using TaqMan® probes technology Information about the product Hereditary hemochromatosis (HH) is an autosomal recessive inherited disorder of iron metabolism. Due to excessive intestinal absorption, iron accumulates in the parenchymal cells of the liver, pancreas, heart and other organs resulting in damage to its…

GENVINSET HLA-A29 detects HLA-A29 group of allelesby real time PCR

Kit for detecting HLA-B*27 alleles by Real time PCR using TaqMan® probes technology Information about the product The major histocompatibility complex (MHC) is the genetic region that contains the most polymorphic loci of the human genome. It is involved in the mechanism of antigen presentation and, as such, defines the general immunological response. Within the MHC,…

Kit for detecting the HLA-B*57:01 alleles by Real-Time PCR using TaqMan® probes technology Information about the product Abacavir sulfate is a synthetic carboxylic nucleoside drug, which works as a reverse transcriptase inhibitor and is used to treat HIV (Human Immunodeficiency Virus). This drug has been associated with the occurrence of fatal hypersensitivity reaction with symptoms…

Kit for detecting the HLA-B*51 and B*52 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 Information about the product Psoriasis vulgaris is a chronic inflammatory disease of skin, which affects 2% of world population. The cutaneous manifestations of psoriasis are obvious and have a negative impact on quality of life of patients. Family studies have demonstrated…

Kit for detecting the HLA-DQB1*02, DQB1*03:02 and DQA1*05 alleles by Real Time PCR using TaqMan® probes technology

Kit para la detección de los alelos HLA-DQB1*02, DQB1*03:02, DQA1*05 y DQA1*03 mediante PCR en tiempo real, Kit for detecting the HLA-DQB1*02, DQB1*03:02, DQA1*05 and DQA1*03 alleles by Real Time PCR using TaqMan® probes technology Information about the product Susceptibility to gluten sensitivity is, in part, genetically determined. The strong predisposition is associated with HLA-DQ…

Kit for the detection of HLA-DQA1*05 allele by Real-Time PCR technology using TaqMan® probes technology. Information about the product Several studies suggested the role of tumor necrosis factor alpha (TNF) in chronic immune-mediated diseases, such as Crohn’s disease, inflammatory bowel disease (IBD), psoriasis and rheumatoid arthritis. Therefore, anti-TNF therapies were developed and are now the…

Kit for detecting the HLA-DQB1*06:02 alleles by Real Time PCR using TaqMan® probes technology

Kit for detecting the C13910T and G22018A polymorphisms of the MCM6 gene by Real Time PCR using specific TaqMan® probes technology. Information about the product In most human beings, the ability to digest lactose rapidly decreases after the breastfeeding period (primary lactose intolerance). This is due to a reduction in the lactase-phlorizin hydrolase enzyme (LPH), which is…

Kit for detecting the C677T polymorphism of the MTHFR gene by Real Time PCR using TaqMan® probes technology Information about the product Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Although MTHFR protein does not participate in the clotting cascade as other proteins such as FII and FV (and therefore belonging to the well-known group…

Kit for detection of the -675 4G/5G polymorphism in SERPINE1 gene by Real Time PCR using TaqMan® probes technology Information about the product PAI-1 is the most important component in fibrinolytic system, which accounts for about 60% of the activity of inhibitors. PAI-1 is a serine protease inhibitor belonging to the serpin superfamily that plays an important…