FSU IPRD DIAGNOSTIC LAB
Clinical Whole Genome Sequencing (WGS) is a comprehensive diagnostic tool for sequencing an individual’s entire genome. WGS is primarily used to diagnose rare diseases and help clinicians end the patient’s diagnostic odyssey.
WGS is used for diagnosing children with developmental delay, intellectual disability or multiple congenital anomalies (roughly 3% of population). Initial workup of these cases often includes neuroimaging, karyotype, CGH array and phenotype-driven metabolic, molecular and serial gene tests. WGS is emerging as the most comprehensive assessment for genetic diagnosis. Clinical use of WGS reduces costs of diagnosis, increases precision of diagnosis, and enables early interventional therapies. In addition, WGS is used in adults to analyze intellectual disabilities, cardiovascular diseases, early-onset dementia, and cancer driver identification.
The anticipated benefits of Whole Genome Sequencing include providing actionable results that alter therapy and direct medical management, including:
Diagnosis
Closure
Prognosis
Treatment
Research
Prevention
In the future, it is likely that Whole Genome Sequencing will be used increasingly as a first-line molecular diagnostic test to help tailor timely medical management, eliminating the need for unnecessary clinical evaluations and therapies.
We’re available Monday through Friday from 8 a.m. – 4 p.m.
Email: IPRD-Genomics@fsu.edu
Phone:1-850-644-4100
E-Fax #: 850-645-6140
Address:FSU IPRD Diagnostic Laboratory
Florida State University, College of Medicine
1115 West Call Street
MRB 1321
Tallahassee, FL 32306
Tests Provided:
Whole Genome Sequencing
Whole Exome Sequencing – reported from WGS test
Expected Turnaround Time:
6 weeks
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