OPTIONS FOR EARLY AND RAPID DIAGNOSIS OF
Genetic Disorders in the NICU/PICU
In the United States, monogenic diseases account for ~20% of infant deaths and ~18% of pediatric hospitalizations. Early and rapid diagnosis of genetic disease in the neonatal/pediatric intensive care units (NICU/PICU) is crucial to administer optimal management and treatment to the patient. Whole exome/genome studies done in the NICU/PICU setting have consistently shown a diagnostic rate of between 19-57%. A genetic diagnosis has, in turn, led to a change in patient management in 31-83% of cases. As the cost and turnaround time (TAT) of genetic testing decreases, these diagnostic tools are becoming more and more relevant in these specific hospital settings.
At PreventionGenetics we believe that rapid, comprehensive, and affordable genetic testing is of utmost importance in this patient population. Our menu includes all of the tools you will need as a medical practitioner caring for a patient in these intensive care units..
Rapid Test Options 
Genome/exome sequencing is superior to the sequencing of single genes or smaller gene panels because of the continual discovery of clinically-relevant genes, dual diagnoses and difficulty in identifying the correct genes using clinical features alone. Starting with genome or exome sequencing can often reduce the time to diagnosis, limiting the diagnostic odyssey and lowering the cost to patients.
Rapid PGxome®
Our whole exome sequencing (WES) assesses essentially all genes from the human genome including coding regions and adjacent introns. This test is intended for health care providers who are looking for a genetic diagnosis when the clinical phenotype is unclear and/or previous test results have been uninformative.
Rapid PGxome has an expedited turnaround time of 2 calendar weeks on average.
Prices starting at $2,290 for patient only.
Rapid PGnome
Whole genome sequencing (WGS) covers portions of the genome, such as deep intronic regions, that are not covered by exome sequencing and yields superior detection of structural variants. In addition, genome sequencing provides improved analysis of tandem repeats and paralogous regions and is essential for the application of polygenic risk algorithms.
Rapid PGnome has an expedited turnaround time of 2 calendar weeks on average.
Prices starting at $2,990 for patient only.
Neonatal Crisis Panel
For this test, we have included the majority of the genes having definitive or strong evidence to cause a highly penetrant childhood-onset disorder. In addition, we have included a number of nuclear genes that have been associated with mitochondrial disorders. If ordering a WGS or WES is not possible due to insurance coverage or other limiting factors, PreventionGenetics offers this ~2,000-gene Neonatal Crisis Panel at a lower cost than the PGnome or PGxome.
The NICU panel has an expedited turnaround time of 2 weeks on average.
Prices starting at $1,790 for patient only.
STAT Panels
Several considerations can drive selections of genetic tests in the critically ill neonate/pediatric patient including phenotype/specific features, clinical stability, etc. In instances when the features are well defined and the patient is relatively stable, a targeted approach (single gene, panels) may be utilized. The majority of our single gene and panel tests can be ordered as STAT for an additional fee. In addition, panels are performed using exome capture probes thus allowing for an easy reflex to WES and other exome-based panels.
STAT option adds 25% to the price.
Resources
References
French et al. 2019 PubMed ID: 30847515
Sanford et al 2019 PubMed ID: 31246743