Introduction
The monogenic disease is also called Mendelian disease, which results from the modifications in a single gene. The monogenic diseases are inherited according to Mendel's Laws, the variants can be inherited from parents or spontaneously happen where there is no previous family history. There are more than 8000+ different types of diseases found to be monogenic diseases. For patients with monogenetic diseases, reaching a diagnosis brings an end to the expensive, time‐consuming, and potentially invasive diagnostic odyssey that burdens patients, families, and the healthcare system.
However, the massive number of disease-causing genes and the combined or complicated phenotypes result in the complex corresponding relationship between clinical manifestations and the disease-causing genes, making it hard to reach a diagnosis.
Clinical whole‐exome sequencing (WES) is an effective diagnostic tool to pinpoint rare genetic alterations in an unbiased and efficient way for patients who have failed to receive a diagnosis despite extensive testing and workup.
Applicable Clinical Scenarios
- A patient with abnormal clinical manifestations which are suspected to be caused by hereditary diseases.
- A patient who has a family history of monogenic diseases.
- A couple who have experienced a previous miscarriage without a clear diagnosis.
Important features of XOME™ Clinical Whole Exome Sequencing (cWES)
| Product Name | XOME™ Clinical Whole Exome Sequencing (cWES) |
| Gene numbers | Over 22,000 protein coding genes |
| Sequencing Range | Whole exome |
| Variant types (Official report) | SNV, Indel, Large CNV, Exon CNV, and Mitochondrial Variants. |
| Variant types (Supplementary report) | Dynamic Mutation, and LOH/UPD. |
| Sequencing depth | ≥200X |
| 20X coverage | ≥98.5% |
| Sample type | Peripheral blood / Saliva / Genomic DNA / Amniotic fluid (Trio) |
*Note: The amniotic fluid sample must be sent along with the samples from the fetus’s parents.
Why Choose XOME™ Clinical Whole Exome Sequencing (cWES)
- Accurate
The mean depth of XOME™ cWES is over 200X, and the 20X coverage ≥98.5%
- Comprehensiveness
The whole exome of over 22,000 genes is captured and sequencing. 4900+ genes related to 6400+ monogenetic diseases are interpreted. Abundant variant types analyzed and interpreted.
- Cost-efficiency
WES offers a cost-effective approach by focusing on the protein-coding regions of the genome, providing valuable insights into genetic disorders with less time at a more affordable cost.
- Multiple Sample Types
cWES product can accommodate samples from saliva, peripheral blood, genetic DNA and amniotic fluid.
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The XOME™ Clinical Whole Exome Sequencing service process
Step 1
Physician orders test
Step 2
Sample collected
Step 3
Sample shipped to us and analyzed
Step 4
Results sent to physician
