Clinical Exome Sequencing
Clinical exome sequencing is when the parts of the genome are sequenced that already have a clinical association with disease.
Features of our test
- Single nucleotide variants (SNVs)
- Insertions and deletions (Indels)
- Structural variants (SVs)
- Copy number variants (CNVs)
- Repeat expansions
- Mitochondrial DNA (mtDNA) variants
- Paralogs
Sample Requirement
- Blood
- Swabs
- FFPE Tissue
- DNA Samples
Why Clinical Exome Sequencing
- Providing overall better-targeted coverage.
- Greater library complexity.
- Higher target enrichment efficiency.
- Significantly higher library uniformity than the rest.
Covers disease-associated genes that are curated from the leading 5 databases
- CCDS
- Ensembl
- ClinVar
- RefSeq
- GENCODE