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Lysosomal Storage Hereditary Diseases Panel, All-In-One-Kit (NGS Library Prep, Hyb Capture, Beads)

2.960,00 

Quantity: 16 rxns

    Please contact us for a quotation

     


    Description

    Assess gene mutations involved in hereditary lysosomal storage diseases at highest sensivity

    • Targets 86 genes associated with mutations causing hereditary lysosomal storage diseases
    • Target Size 196 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´ Lysosomal Storage Hereditary Diseases Panel was developed to target mutations commonly described to be involved in hereditary lysosomal storage diseases 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.

    Shipping Conditions: Dry Ice
    Storage Temperature: -20C