Diagnosis Through the Power of Many: PGxome Now Available
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We are excited to announce the launch of PGxome, PreventionGenetics' whole exome sequencing test!
Using NextGen sequencing technology, PGxome assesses almost all genes from the human genome including coding regions and adjacent introns. As our distinguishing quality feature, variants identified are first manually reviewed by MD and PhD geneticists who have specialization in specific disease areas to ensure appropriate variant classification. This specialty-focused approach harnesses the collective knowledge and experience of many Geneticists in collaboration, and through the power of many, we are able to help accurately determine your patient's diagnosis.
PGxome is intended for healthcare providers who are looking for a genetic diagnosis when the clinical phenotype is unclear and/or when previous test results have been uninformative. This is especially important given that over 50% of patients with genetic diseases are not given a specific diagnosis even after repeated clinical examinations and tests (Shashi et al. 2014).
It is recommended that PGxome testing is performed on trios (typically the patient and both biological parents) in order to provide the highest probability of identifying a genetic explanation for the patient's phenotype. Approximately 20-40% of patients will receive a diagnosis or suspected diagnosis from this testing (Atwal et al. 2014; Iglesias et al. 2014; Farwell et al. 2015). The patient and/or patient's family is also given choices to opt in or opt out of receiving information on particular types of secondary findings. This customization allows us to provide the most valuable and appropriate results for each patient's needs. For more details regarding PGxome, click here.
To order testing, see our PGxome Test Requisition Form.
Use the power of many to end your patients' diagnostic odyssey. PGxome: Put us to the test!