Molecular Genetics

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Molecular Genetics
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Productos de Molecular Genetics

Adellgene® Fragile X

Kit for the determination of healthy, premutation and mutant alleles in the FMR1 gene by fluorescent fragment analysis
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis

Adellgene® Fragile X Screening

Kit for the determination of healthy and premutation alleles in the FMR1 gene by fluorescent fragment analysis
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis
Next Generation Sequencing (NGS)

Adellgene® Friedreich’s Ataxia

NGS assay to study 28 genes commonly associated with solid tumor type cancers from circulating cell-free tumor DNA (ccfDNA/cfDNA/ctDNA).
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis

Adellgene® Huntington Disease

Kit for the determination of the CAG triplet repeats number of the HTT gene by fluorescent fragment analysis
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis

Adellgene® Myotonic Dystrophy Confirmatory

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis

Adellgene® Myotonic Dystrophy Screening

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis

Adellgene® SCAs

NGS assays associated with solid tumors
Blackhills Diagnostic Resources
Molecular Genetics
Fragment Analysis

ERT (Endometrial Receptivity Test)

Endometrial Receptivity Test to improve the clinical pregnancy of IVF-ET (In vitro Fertilization & Embryo Transfer).
Yikon Genomics
Molecular Genetics
Next Generation Sequencing (NGS)

Free DNA Fetal Kit® RhD

Genotyping fetal RhD maternal blood samples.
Institute of Biotechnologies Jacques Boy
Fetal RhD
RT-PCR

Genvinset® Factor II G20210A

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…
Blackhills Diagnostic Resources
Hematology
RT-PCR

Genvinset® Factor V G1691A

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…
Blackhills Diagnostic Resources
Hematology
RT-PCR

Genvinset® HFE C282Y

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…
Blackhills Diagnostic Resources
Hematology
RT-PCR

Genvinset® HFE S65C

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…
Blackhills Diagnostic Resources
Hematology
RT-PCR

Genvinset® HLA B57v5

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…
Blackhills Diagnostic Resources
Immunology and transplantation
RT-PCR

Genvinset® HLA DQA1*05

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…
Blackhills Diagnostic Resources
HLA associated diseases
RT-PCR

Genvinset® HLA Narcolepsy

Kit for detecting the HLA-DQB1*06:02 alleles by Real Time PCR using TaqMan® probes technology
Blackhills Diagnostic Resources
HLA associated diseases
RT-PCR

Genvinset® Lactose Intolerance

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…
Blackhills Diagnostic Resources
Molecular Genetics
RT-PCR

Genvinset® MTHFR C677T

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…
Blackhills Diagnostic Resources
Hematology
RT-PCR

Genvinset® PAI-1 4G/5G

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…
Blackhills Diagnostic Resources
Hematology
RT-PCR

GeoMx Cancer Transcriptome Atlas (CTA)

Spatial study of the expression of over 1,800 genes involved in tumour biology, tumour microenvironment and immune response.
NanoString Technologies
Molecular Genetics
GeoMx Digital Spatial Profiler

GeoMx Immune Pathways Panel

The GeoMx® Immune Pathways Panel is designed to profile key aspects of tumor biology, the tumor microenvironment, and the immune response, with spatial resolution from distinct regions of interest with a single tissue section.  
NanoString Technologies
Molecular Genetics
GeoMx Digital Spatial Profiler

GeoMx Whole Transcriptome Atlas (WTA)

Comprehensive spatial study of cellular biology, with full coverage of protein coding genes, and application in several fields: oncology, immunology, neuroscience, developmental biology...
NanoString Technologies
Molecular Genetics
GeoMx Digital Spatial Profiler

Human Core Exome Kit y Human Core Exome + RefSeq Kit

Twist Human Core Exome and Twist Human Core Exome + Ref Seq are the two capture solutions for human exome sequencing by Twist Bioscience. The superior performance of the Twist Core Exome provides the optimal solution for sequencing human coding genes, while focusing on the most accurate curated subset of genes: that of the CCDS…
Twist Bioscience
Exomes
Next Generation Sequencing (NGS)

Kit Yourgene DPYD

Detection of 6 mutations associated with dihydropyrimidine dehydrogenase deficiency.
Yourgene Health
Molecular Genetics
Fragment Analysis

Kit Yourgene TRP-Fplus

Analyses the 4 most relevant mutations associated with increased risk of thrombosis
Yourgene Health
Hematology
Fragment Analysis

Lipid inCode®

Global genetic diagnostic test and risk stratification of patients with clinical suspicion of familial hypercholesterolaemia.
Gen inCode
Genetic Panels
Next Generation Sequencing (NGS)

Male Infertility – MFI-Y & MFI-Y Plus

Molecular diagnosis of Male Factor Infertility (aneuploidy, microdeletions, CBAVD)
Yourgene Health
Male infertility
Fragment Analysis

nCounter Alzheimer’s Disease Panel

Expression study of genes related to Alzheimer’s Disease.
NanoString Technologies
Molecular Genetics
nCounter

nCounter Autoimmune Discovery Panel

Study of the relationship between autoimmune disease associated germline variants and gene expression.
NanoString Technologies
Immune response and biomarkers
nCounter

nCounter Autoimmune Profiling Panel

Study of relevant genes in autoimmune disease, chronic inflammatory disease and immunotherapy-related adverse events (human panel and mouse panel).
NanoString Technologies
Immune response and biomarkers
nCounter