Expanded testing options for PGxome and large PGxome-based tests
PreventionGenetics is excited to announce the addition of Patient Plus for PGxomeⓇ and large exome-based tests - Autism Spectrum Disorders and Intellectual Disability panel and Neonatal Crisis panel. Patient Plus involves sequencing and copy number variant (CNV) analysis of the patient, and then use of the parental specimens to perform targeted testing for the key sequence variants found in the patient. This approach permits detection of de novo variants and phasing of variants in recessive genes.
Approximately 20-40% of patients will receive a diagnosis or suspected diagnosis from whole exome sequencing (WES), with higher rates being reported from trio analysis (i.e. proband and parents) compared to singleton analysis (Atwal et al. 2014; Iglesias et al. 2014; Farwell et al. 2015). Diagnostic rates for PreventionGenetics’ ASD-ID and Neonatal Crisis Panel are comparable to WES. While trio sequencing is preferred and recommended, the goal of the new patient plus option is to increase diagnostic yield from a singleton in situations where full trio sequencing may not be feasible.
|Test Code||Test Type||Total Price|
|5005||Patient Plus (patient + targeted variant testing of parents. Both parents required)||$2,490|
|5200||Family - Duo (Patient + 1 additional family member)||$3,190|
|5300||Family - Trio (Patient + 2 additional family members)||$3,990|
• Transparent (and recently reduced) pricing
• Coverage data – average gene-specific exome coverage data is available through the custom panels too
• CNV analysis included
• High quality and knowledge of experts – ease of mind and trust in results
• Optional other diagnoses/predispositions, pharmacogenetics, and carrier status reporting (PGxome only)
• Online ordering through myPrevent
Can I send two biological relatives that aren’t parents for PGxome Diagnostic Patient Plus?
At this time, we are only accepting both biological parents as the additional samples for PGxome Diagnostic Patient Plus
What is your reinterpretation policy?
PreventionGenetics will perform, without additional charge, one reanalysis and reinterpretation of the data within two years of the date on the original test report. Thereafter, reanalysis and reinterpretation may be requested for a fee.
What if I can’t send in both parental specimens with the patient’s?
For Patient Plus, we allow providers 2 weeks to get us both parental specimens. If not received by that time, we would automatically switch to a standard patient-only order.
Atwal P.S. et al. 2014. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 717-9. PubMed ID: 24525916
Farwell K.D. et al. 2015. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 578-86. PubMed ID: 25356970
Iglesias A. et al. 2014. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 922-31. PubMed ID: 24901346