WHOLE EXOME SEQUENCING

The exome represents less than 2% of the genetic code, but what makes Whole Exome Sequencing a cost-effective alternative to Whole Genome Sequencing is that the exome region actually contains approximately 85% of known mutations.

Genetic disorders that cause diseases in humans are largely located within the coding regions of genes. With this test, the coding parts of all genes detected to date are evaluated.

WHY CHOOSE CENTOGENE?

Test
Whole Exome Sequencing
Method
Next Generation Sequencing
Analysis Time
4-5 weeks
Sample Type
Blood, Bone Marrow, Blood Card
Sample Tube
Purple Cap (with EDTA),
Storage Conditions
1 week at +4 C
Conditions of Carriage
Same day; at room temperature
Rejection Criteria
Hemolyzed, Lipemic, Icteric samples are not accepted

Unlike current sequencing tests that analyze one gene or groups of related genes at a time, Whole Exome Sequencing testing can analyze exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.

For clinical evaluation, all disease-causing variants specified in the OMIM, ClinVar, Cosmic databases are evaluated. Variants affecting protein function are primarily examined and reported considering their relationship to the phenotype.

Test results; Clinical findings are interpreted in the context of family history and other laboratory data, and only variations in genes that are associated with the patient’s clinical findings are identified.

Advantages of Whole Exome Sequencing

Lower cost
High Inclusivity and Coverage (~100X)
Reading of single nucleotide polymorphism (SNP) variants as sensitive as whole genome sequencing
Provides more usable data for faster and easier analysis compared to whole genome sequencing