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

Kit para la detección de la mutación G20210A del gen de la protrombina mediante PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información del producto La protrombina (factor II de coagulación) es una glicoproteína sintetizada en el hígado. Es un componente esencial del mecanismo de coagulación. La regulación de la expresión de la protrombina es…

Kit para la detección de la mutación G1691A del gen del Factor V (FV) mediante PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información del producto El Factor V Leiden es una variante del Factor V de la coagulación humana. Tiene un papel muy importante en la cascada de coagulación. La mutación G1691A…

Kit para la detección de la mutación C282Y del gen HFE mediante PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información sobre el producto La hemocromatosis hereditaria (HH) es un trastorno hereditario autosómico recesivo del metabolismo del hierro. Debido a una absorción intestinal excesiva, el hierro se acumula en las células parenquimatosas del hígado, el…

Kit for detecting the H63D 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 para la detección del alelo HLA-DQA1*05 mediante PCR en tiempo real utilizando la tecnología de sondas TaqMan®. Información del producto Varios estudios sugieren un papel del factor de necrosis tumoral alfa (TNF) en enfermedades crónicas inmunomediadas, como la enfermedad de Crohn, la enfermedad inflamatoria intestinal (EII), la psoriasis y la artritis reumatoide. Por ello,…

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 A1298C 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 para la detección del polimorfismo C677T del gen MTHFR por PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información sobre el producto La metiltetrahidrofolato reductasa (MTHFR) es una enzima clave en el metabolismo del folato. Aunque esta enzima no participa en la cascada de coagulación como otras proteínas (Factor II o el Factor V),…

Kit para la detección del polimorfismo -675 4G/5G en el gen SERPINE1 mediante PCR en tiempo real utilizando la tecnología de sondas TaqMan® Información del producto PAI-1 es el componente más importante del sistema fibrinolítico y es el responsable de alrededor del 60% de la actividad inhibidora. PAI-1 es un inhibidor de la serina proteasa perteneciente a…