Hereditary Metabolic Disorders Panel, All-In-One-Kit (NGS Library Prep, Hyb Capture, Beads)
2.830,00 €
Description
Assess gene mutations involved in hereditary metabolic disorders at highest sensivity
• Targets 71 genes associated with mutations causing hereditary metabolic disorders
• Target Size 138 kb (Whole CDS, Hotspots)
• Gene-Add-On Service when needed- contact us with your wish list
• Probes targeting mitochondrial or intronic/regulatory regions can also be spiked in – please inquire!
• Celemics´probe design ensures superior on-target performance, coverage, and uniformity
• Hard to capture sequences such as GC-rich, AT-rich and homologous sequences are equally represented
• Detection of SNV, Indel, CNV
• Full Bioinformatics Support available when needed
• Input: >50 ng fragmented DNA
Celemics´ Hereditary Metabolic Disorders Panel was developed to target mutations commonly described to be involved in hereditary metabolic disorders for cost-efficient and sensitive sequencing.
The All-In-One-Kit includes the NGS Library Kit developed for the Illumina Sequencing platform – user manual see here – and all accessories such as magnetic beads, Streptavidin beads, and Polymerase. For 48 rxns and 96 rxns kit sizes please contact us. All-In-One KIts for Ion Torrent and MGI platforms can also be ordered – please inquire!
The hyb capture panel – which is suitable for any sequencing platform including Illumina, Ion Torrent, MGI, PacBio and Oxford Nanopore – is also available without accessories and without library prep kit – please contact us us for pricing.
