Rapid Exome Testing at PreventionGenetics
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Getting results fast is important for managing acutely ill patients. At PreventionGenetics, we offer comprehensive genetic testing options that allow patients to receive the answers they need quickly. This includes our Rapid PGxome® test—whole exome sequencing (WES) test—and Neonatal Crisis (NICU) panel. Both tests have an expedited average turnaround time of 14 days.
In the United States, inherited diseases that present early in life as severe neonatal or childhood (<2 years old) illnesses account for ~20% of infant deaths and ~18% of pediatric hospitalizations (Kingsmore. 2012; Saunders et al. 2012). Studies have shown genetic testing in such patients often yields a molecular diagnosis that allows for early intervention for the patient, proper genetic counseling of the family, and shortened diagnostic odysseys (Ceyhan-Birsoy et al. 2017. PubMed ID: 28079900; Kingsmore. 2012. PubMed ID: 22872815; Meng et al. 2017. PubMed ID: 28973083; Saunders et al. 2012. PubMed ID: 23035047; Stark et al. 2017. PubMed ID: 28125081).
Rapid PGxome®
Rapid PGxome® is an appropriate choice for health care providers who are looking for an urgent genetic diagnosis. Recent studies have reported whole exome 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.
| Option | Price |
| Patient Only | $2,290 |
| Family - Duo | $2,690 |
| Family - Trio | $2,890 |
Additional PGxome Test Information
● Detailed clinical notes are required
● Secondary findings are not available for Rapid PGxome®
● Blood, DNA, fresh frozen tissue, and cultured cells are accepted specimens for Rapid PGxome®
● Rapid PGxome® includes whole-exome copy number variation (CNV) analysis
● Sequencing of additional family member beyond trio - $390
● For Family - Duo and Trio, a report is issued for the patient only; report for additional family member - $490
● Free reinterpretation within 3 years of testing
Neonatal Crisis (NICU) Panel
If ordering a Rapid PGxome is not possible, PreventionGenetics offers a 1757 gene Neonatal Crisis (NICU) Panel. Clinically, patients may present with a wide-variety of non-specific symptoms, including but not limited to respiratory distress, hypotonia, gastrointestinal distress, difficulty feeding, failure to thrive, lethargy, seizures, encephalopathy, cardiac defects, organomegaly, unusual facial features, abnormal odor, and metabolic disturbances (Saudubray and Cazorla. 2016). The NICU panel also includes disorders that may present prenatally with abnormal ultrasound findings (Pangalos et al. 2016. PubMed ID: 27168972, genes analyzed from the most updated version of the Fetalis pipeline as of October 2018). PreventionGenetics’ NICU panel is billed as a panel and offers the expedited turnaround time of 14 days on average.
Additional Neonatal Crisis Panel Test Options
● Detailed clinical notes are required
● Secondary findings are not available for Rapid PGxome
● Blood, DNA, fresh frozen tissue, and cultured cells are accepted specimens for Rapid PGxome
● Neonatal Crisis Panel includes whole-exome copy number variation (CNV) analysis
● Sequencing of additional family member 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 Other
Rapid Testing Options at PreventionGenetics
In addition to Rapid PGxome and our rapid Neonatal Crisis Panel, PreventionGenetics offers the ability to order any Sanger sequencing test and Gene-centric aCGH test as STAT. A STAT test has a turnaround time of 8-10 calendar days and incurs a 25% surcharge on the cost of testing.
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
Saudubray and Cazorla. 2016. Clinical Approach to Inborn Errors of Metabolism in Pediatrics. In: Saudubray JM, Baumgartner MR, and Walter J, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer, p 8-14.
Saunders et al. 2012. PubMed ID: 23035047
Stark et al. 2017. PubMed ID: 28125081
Willing et al. 2015. PubMed ID: 25937001