![]() Short/branched chain acyl-CoA dehydrogenase deficiency Short chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase deficiency Mitochondrial complex I deficiency, ACAD9-related Progressive familial intrahepatic cholestasis, type 3 Progressive familial intrahepatic cholestasis, type 2 No records were found matching your criteria Disease research areaĪchalasia-addisonianism-alacrima syndrome Leveraging Ion AmpliSeq technology, these optimized assay kits streamline implementation and help ensure reliable and consistent resultsĪpplication Note: Accelerate comprehensive expanded carrier screening research in your labĬarrierMax FMR1 Reagent Kits for detection of CGG repeats in the Fragile X Mental Retardation (FMR1) gene A complete end-to-end solution from a single vendor-CarrierSeq ECS kits include reagents for library preparation, template preparation, and sequencing, plus software for data analysis and reporting.Consolidate stand-alone assays to improve lab efficiency-NGS enables simultaneous screening of hundreds of genes in one experiment, providing information on a broader range of targets with a faster turn-around time than traditional techniques such as PCR or Sanger sequencing.Screen for a broad range of inherited disorders-a 420-gene panel targeting the full coding region of all genes enables the analysis of >36,000 non-benign ClinVar variants for single-nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs) by NGS.
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