xGen® Inherited Diseases Panel

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 inherited diseases. The panel enables deeper sequencing of these regions to increase detection of disease-causing mutations. The gene list is based on the HGMD® (Human Gene Mutation Database) repository of known inherited disease-causing mutations.

  • Achieve high uniformity across all targets from 116,355 individually synthesized and quality controlled probes
  • Identify disease-related mutations faster using an optimized, 4-hour capture protocol
  • Easily expand to a custom panel by adding xGen Lockdown Probes

xGen® Inherited Diseases Panel

The xGen Inherited Diseases Panel comprises 116,355 xGen Lockdown Probes targeting genomic regions associated with inherited diseases. The panel is available in 2 sizes—16 reactions and 96 reactions.

ProductPricing
16 rxn xGen® Inherited Diseases Panel v1.0$2,400.00 USD
96 rxn xGen® Inherited Diseases Panel v1.0$14,400.00 USD

Introduction

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.

Panel

The xGen® Inherited Diseases Panel captures genes associated with the following 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

Design Information

Higher Coverage Uniformity, Consistent Performance, High Reproducibility

The data presented in Figures 1–3 demonstrate the excellent performance of the xGen® Inherited Diseases Panel. Target enrichment was performed using the xGen Rapid Capture Protocol v1 (4-hour hybridization) and data were normalized to 25M reads. The average sample insert size was 344 bases with a standard deviation of 35 bases. The range of on-target reads was 14.3–14.9M with 4.6–5% duplicate reads.

High Uniformity of Coverage

Figure 1. Highly Uniform Coverage from xGen® Inherited Diseases Panel. Uniformity of coverage of the target regions is represented here as proportion of targets with >0.2 x mean coverage (blue), >0.5 x mean coverage (green) and >1.0 x mean coverage (grey). The data demonstrate that with a mean coverage depth of 100X, 99% of the targets captured using the xGen® Inherited Diseases Panel will have >20X depth of coverage. Error bars indicate standard deviation from the mean.

Complete Coverage Across All Targets

Figure 2. Complete Coverage of Targeted Regions Using xGen® Inherited Diseases Panel. Uniformity of coverage for 2 replicate captures using the xGen® Inherited Diseases Panel were compared. The 2 experiments had practically identical coverage, with both achieving 98.7% of all targets covered at ≥30X using 25M reads on the Illumina MiSeq® Sequencing System (300-base paired-end reads).

Consistent Performance and High Reproducibility

Figure 3. High Reproducibility Obtained Using xGen® Inherited Diseases Panel. A comparison of target-by-target coverage between 2 sample replicates captured using the xGen® Inherited Diseases Panel shows excellent reproducibility, with an R2 value of 0.9622, demonstrating the consistent, high performance of the panel.