xGen Inherited Diseases Panel
101635216 rxn xGen Inherited Diseases Panel v1.016 rxn-α
101635196 rxn xGen Inherited Diseases Panel v1.096 rxn-α

xGen 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 (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


16 rxn xGen Inherited Diseases Panel v1.0

96 rxn xGen 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 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 biotin modification and manufactured using proprietary Ultramer synthesis technology.

Panel (target disorders)

Autism spectrum disorders



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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