xGen¢ç Inherited Diseases Panel
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101635216 rxn xGen¢ç Inherited Diseases Panel v1.016 rxn-·Î±×ÀÎ
101635196 rxn xGen¢ç Inherited Diseases Panel v1.096 rxn-·Î±×ÀÎ


xGen¢ç Inherited Diseases Panel


Targeted sequencing of genes associated with inherited diseases


The xGen Inherited Diseases Panel enables deeper sequencing of genomic regions containing genes and SNPs associated with inherited diseases. The gene list is based on the HGMD¢ç (Human Gene Mutation Database) repository of known inherited disease-causing mutations.


  • Obtain high coverage uniformity across all targets
  • Detect variations reliably with high reproducibility and increased depth of coverage
  • Enjoy fast turnaround via easy online ordering and next-day shipping


 


xGen Inherited Diseases Panel


Product


16 rxn xGen¢ç Inherited Diseases Panel v1.0


96 rxn xGen¢ç Inherited Diseases Panel v1.0



 


Whole exome sequencing has traditionally been the standard method for detecting a wide variety of inherited diseases. However, focused sequencing of specific genomic regions of interest provides deeper coverage for easier, more efficient, and more accurate detection of disease-causing mutations. The xGen Inherited Diseases Panel targets all disease-causing mutations as defined by the HGMD database, combining the ease of whole exome sequencing with the low per sample cost of targeted panels.


The xGen Inherited Diseases Panel consists of 116,355 xGen Lockdown¢ç Probes, spanning 11.1 Mb of the human genome, designed for targeted enrichment of genes and SNPs associated with the inherited diseases listed. xGen Lockdown Probes are individually synthesized and quality controlled 120mer oligonucleotides bearing a 5¡Ç biotin modification and manufactured using proprietary Ultramer¢ç synthesis technology.


Panel (target disorders)


Autism spectrum disorders


Cardiomyopathy


Ciliopathies


Congenital disorders of glycosylation


Congenital nyasthenic syndromes


Epilepsy and seizure disorders


Eye disorders


Glycogen storage disorders


Hearing loss


Hereditary cancer syndrome


Hereditary periodic fever syndromes


Inflammatory bowel disease


Lysosomal storage disorders


Maturity onset diabetes of the young


Multiple epiphyseal dysplasia


Neuromuscular disorders


Noonan syndrome and related disorders


Peroxisome biogenesis disorders, Zellweger syndrome spectrum


Short stature panel


Skeletal dysplasia


X-linked intellectual disability


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