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Introducing Rapid PGxomeⓇ

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PreventionGenetics is excited to introduce Rapid PGxome to our menu of whole exome sequencing (WES) tests. Rapid PGxome is WES with an expedited average turnaround time of 14 days. Our Rapid PGxome is ideal for situations where a rapid diagnosis is essential, typically patients with neonatal, infantile or early childhood onset severe disorders.

Many known monogenic diseases may present early in life as severe neonatal or early childhood (<2 years old) illness. In the United States, such diseases account for ~20% of infant deaths and ~18% of pediatric hospitalizations (Kingsmore. 2012; Saunders et al. 2012). Recent studies have reported WES diagnostic rates of 30-57% in neonatal and pediatric intensive care (NICU and PICU) patients (Willing et. al. 2015, Ritter et al. 2019, Meng et al. 2017). Additionally clinical WES has shown to impact medical management for 52% (higher in those that received WES with a rapid or expedited turnaround time) of patients. Changes in medical management include: redirection of care, initiation of new subspecialist care, additional diagnostic studies, changes in medication or diet, and major procedures, such as a transplant (Meng et al. 2017). Furthermore, WES has the potential to influence health management and family planning for parents and other family members.

Pricing

Rapid PGxome

Option Price
Family - Trio $2,890
Patient Plus $2,390
Family -Duo $2,690
Patient Only $2,290

Rapid Neonatal Crisis (NICU) Panel
In cases where Rapid PGxome may not be feasible, PreventionGenetics offers a rapid Neonatal Crisis (NICU) Panel. Our NICU Panel includes sequencing analysis of 1604 genes. These genes have been carefully curated to be associated with the majority of severe infant or early childhood onset genetic disorders (Kingsmore. 2012; Ceyhan-Birsoy et al. 2017) as well as disorders that may present prenatally with abnormal ultrasound findings (Pangalos et al. 2016). PreventionGenetics’ NICU panel is billed as a panel and offers the same expedited turnaround time of 14 days on average. Both our NICU Panel and Rapid PGxome texts include whole-exome copy number variation (CNV) analysis.  

Rapid Neonatal Crisis (NICU) Panel

Option Price
Family - Trio $2,490
Patient Plus $1,990
Family -Duo $2,290
Patient Only $1,890

Sequencing of additional family members beyond trio - $390

For Family - Duo and Trio, a report is issued for the patient only. Report for additional family member - $490
Reflex to whole exome $390

Additional Details
    • Detailed clinical notes are required for all Rapid PGxome and NICU panel tests.
    • Secondary findings are not available for Rapid PGxome or NICU panel.
    • Blood, DNA, fresh frozen tissue, and cultured cells are accepted specimens for Rapid PGxome and NICU panel.

 

References:
Ceyhan-Birsoy et al. 2017. PubMed ID: 28079900
Kingsmore. 2012. PubMed ID: 22872815
Meng et al. 2017. PubMed ID: 28973083
Pangalos et al. 2016. PubMed ID: 27168972
Ritter et al. 2019. PMID: 31527676
Saunders et al. 2012. PubMed ID: 23035047
Willing et al. 2015. PubMed ID: 25937001