Did you know that the human genome consists of approximately 3 billion "genetic letters" and more than 20,000 genes?
cWGS analyzes more than 20.000 gen human genes, including >4.800 gen genes associated with diseases documented in the medical literature (OMIM database). Compared with WES, cWGS provides a more complete view of the genome, including non-coding genes, mitochondrial genes, and intergenic regions for complex health cases.
What can be detected?
Single-nucleotide variants (SNVs) and small insertions/deletions
Copy number variants (CNVs), both small (exon-level) and large
Mitochondrial gene variants
Structural variants such as LOH (loss of heterozygosity), translocations, and inversions
Dynamic mutations such as STRs (short tandem repeats)
Some conditions suitable for testing:
Congenital anomalies affecting multiple organ systems
Autism
Neurodevelopmental disorders
Growth disorders or developmental delays
Intellectual disability
Epilepsy
Critically ill newborns
Complex diseases that are difficult to diagnose
Why Choose cWGS?
Comprehensive Detection, Complete Information
We examine all key parts of the genome: exons, introns, mitochondrial genes, and intergenic regions. We look not only for small mutations but also for large changes in your DNA structure.
One Test, Many Answers
Instead of undergoing multiple different tests, a single WGS test provides information equivalent to WES, CNV testing, and mitochondrial sequencing. Results are faster and costs are more efficient.
Standardized Procedures, Reliable Results
From laboratory processing to analysis and reporting, everything is performed in accordance with stringent international standards.
Handled by an Expert Team
Our team has published more than 200 studies on single-gene disorders. We not only analyze data, but also provide professional medical interpretation and genetic counseling services.
Technical Specifications
• Sequencing depth >40x (after deduplication)
• 20x coverage across more than 90% of the genomic region
• Mitochondrial genome coverage ≥99% (200x) if copy number ≥50
Testing Service Options
Sequencing for one patient.
Sequencing the patient and both parents improves accuracy in tracking inherited mutations. Samples are submitted together.
Note: For Trio testing, samples from the patient and parents must be submitted at the same time.
When Is This Test Recommended?
This test is highly recommended for:
Individuals with single-gene disorders (proband or trio)
People with a family history of genetic disease
Fetuses with congenital anomalies (but normal chromosomal results or no testing yet)
Current pregnancy with suspected anomalies similar to a previous case
Supporting Diagnosis
Helps doctors identify the genetic cause of a symptom or disease of unknown origin.
Providing Reproductive Guidance
Once the causative mutation is identified, test results can serve as an important reference for couples planning a healthy pregnancy in the future.
Test Specifications
Depth >40x, coverage >20x ≥90% of the genome, mitochondrial coverage ≥99% (200x)
5 mL of blood, genomic DNA ≥5µg
± 30 business days from receipt of the sample by the laboratory