The xGen Inherited Diseases Hyb Panel enables research involving deeper sequencing of genomic regions containing genes and SNPs associated with inherited diseases. The panel targets disease-causing mutations as defined by The Human Gene Mutation Database (HGMD®) to combine the ease of WES with the low per sample cost of targeted panels.
The xGen Inherited Diseases Panel consists of 116,355 xGen Hyb Probes—spanning approximately 11.1 Mb of the human genome. The probes are individually-synthesized and quality-controlled 120 mer oligonucleotides, bearing a 5′ biotin modification and manufactured using our proprietary Ultramer™ synthesis technology.
The xGen Hybridization Capture Core Reagents (xGen Hybridization and Wash Kit, xGen Universal Blockers, xGen Library Amplification Primer Mix, and/or xGen Human Cot DNA) are supplied separately.
Targeted disorders of the xGen Inherited Diseases Hyb Panel:
| Autism spectrum disorders | Inflammatory bowel disease |
| Cardiomyopathy | Lysosomal storage disorders |
| Ciliopathies | Maturity onset diabetes of the young |
| Congenital disorders of glycosylation | Multiple epiphyseal dysplasia |
| Congenital myasthenic syndromes | Neuromuscular disorders |
| Epilepsy and seizure disorders | Noonan syndrome and related disorders |
| Eye disorders | Peroxisome biogenesis disorders |
| Glycogen storage disorders | Zellweger syndrome spectrum disorders |
| Hearing loss | Short stature panel |
| Hereditary cancer syndrome | Skeletal dysplasia |
| Hereditary periodic fever syndromes | X-linked intellectual disability |
A list of included genes is available upon request.
For more information, please contact us by e-mail: diagnostika@pentagen.cz
