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.
xGen Inherited Diseases Panel
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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