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Ion AmpliSeq™ Inherited Disease Panel

Catalog number: 4477686

Ion Torrent™  Related applications: DNA Sequencing | Ion Torrent™ Next-Generation Sequencing | Oncology & Genetic Disease Research

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Description

The Ion AmpliSeq™ Inherited Disease Panel provides highly multiplexed target selection of all exons of over genes that are mutated in over 700 unique inherited diseases, according to NCBI ClinVar database (May 2012). Consulting with clinical molecular geneticists involved with inherited disease research, Ion Torrent has designed a single comprehensive inherited disease panel comprising genes implicated in some of the most common Mendelian diseases. Download the Ion AmpliSeq™ Inherited Disease Panel list of target genes (.xls).

With all-exon coverage of disease genes, Ion AmpliSeq™ technology allows ultra-high multiplex PCR combined with targeted sequencing library construction in just 12 hours for over 300 genes. Utilizing only 10 ng of input DNA per primer pool for a total of 30 ng of input DNA, analysis of samples with low DNA yield or quality is possible. The Ion AmpliSeq™ Inherited Disease Panel is optimized for library construction with the Ion AmpliSeq™ Library Kit 2.0. Libraries are then ready for template preparation on the Ion OneTouch™ System and sequencing on the Ion PGM™ Sequencer. The Ion AmpliSeq™ Inherited Disease Panel is not compatible with Ion Ampliseq™ 2.0 Beta Kits.

Features and Benefits:

• Broad survey of significant genetic disease genes with extensive 300+ gene panel
• Ultra-high multiplex PCR with ~10,500 primer pairs in only three pools with Ion AmpliSeq™ technology
• Low DNA input of only 30 ng DNA enables samples of low DNA yield or quality
• Start comprehensive studies for disease-causing mutations quickly with pre-designed primer pools and streamlined design of primers
• Simplify analysis and annotation of variants with Ion Reporter

Extensive Gene Panel
Ion Torrent has designed the most extensive inherited disease panel for semiconductor sequencing. Working with inherited disease researchers and reviewing literature and databases, the Ion AmpliSeq™ Inherited Disease Panel was designed to target all exons of key disease genes implicated in commonly inherited diseases and Mendelian diseases. This panel includes genes associated with the most common forms of inherited deafness, blindness, heart disease, Parkinson's disease, immunodeficiency, and various ataxias, anemias, and treatable metabolic syndromes. Genes listed in the NIH Genetic Test Registry are also included in this panel.

Transformative Ion AmpliSeq™ Technology with ~10,500 Primer Pairs
The Ion AmpliSeq™ Inherited Disease Panel is comprised of three primer pools totaling almost 10,500 amplicons and covering over 300 genes, with each primer pool containing approximately 3,500 amplicons. Used in conjunction with the Ion AmpliSeq™ Library Kit 2.0, the Ion AmpliSeq™ Inherited Disease Panel maintains high uniformity and specificity at this high plexy, truly transforming the paradigm of ultra-high multiplex PCR with the Ion AmpliSeq™ technology.

30 ng DNA for Over 300 Genes
The Ion AmpliSeq™ Inherited Disease Panel requires only 30 ng DNA input (10 ng per primer pool tube) to assay over 300 disease genes, whereas other target selection methods typically require micrograms of DNA input. This low DNA input requirement provides accessibility to samples with low DNA yield and quality.

Streamlined Target Selection Without Primer Design
The pre-designed primers in the Ion AmpliSeq™ Inherited Disease Panel allow you to get started on your disease research studies without waiting for primer design or oligonucleotide manufacturing. To further focus your genetic disease research, Ion AmpliSeq™ Custom Solutions offers a simple way to select a set of genes from the Ion AmpliSeq™ Inherited Disease Panel. Using Ion AmpliSeq™ Designer, researchers can simply add or subtract genes from this panel to create your own custom panel. The flexibility and scalability of Ion AmpliSeq™ solutions spans across both the Ion AmpliSeq™ Ready-To-Use Panels and Ion AmpliSeq™ Custom Panels.

For Research Use Only. Not for any animal or human therapeutic or diagnostic use.
For Research Use Only. Not for use in diagnostic procedures.

Specifications

For Use With (Equipment): Ion PGM™ System
Library Type: Targeted Sequencing Library
Workflow Step: Target Selection
Starting Material: DNA
Sequencing Type: Genome & DNA Sequencing
Species: Human
Technique: Post-Light™ Ion Semiconductor Sequencing, Amplicon Sequencing
Product Size: 8 reactions
Multiplex Capability: Multiplex PCR: 10,500 primer pairs in 3 pools
Sample Type (Specific): Clinical Sample, DNA (Genomic), Whole Blood, Double-Stranded DNA (dsDNA), Cell Cultures, Blood, Buccal Swab, Buffy Coat
Starting Material (Amount): 30 ng

Contents & storage

3 tubes — Store at -30 to -10 °

Documents

Manuals & protocols