service description
bgi’s clinical whole exome sequencing examines the dna sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases.
why choose clinical whole exome sequencing?
accurately provides a straightforward and cost effective approach for identifying the genetic variants responsible for a wide range of genetic disorders, thereby assisting clinical diagnosis. many genetic disorders are amenable to effective treatment upon timely diagnosis. early detection and intervention can lead to more favorable clinical outcomes.
conditions screened: sequencing of over 180,000 exons across 22,000 genes for more than 4000 monogenic diseases. contact us for more information.
suitable for: intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders.
ta time: under 50 working days, expedited service available
sample: peripheral blood, dna
technology: high coverage ngs
different service options to suit your needs.
access our premium bgi-xome service with interpretation provided by .
note: this test does not screen for potential chromosomal or genetic conditions other than those expressly identified. before making any treatment decisions, all patients should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. this testing service has not been cleared or approved by the us fda and is not available in the usa.
applications
germline variant detection
somatic variant detection
associating dna variants with a phenotype, such as a disease
structural variant discovery
copy number variation
