Here for Your Smallest, Most Critical Patients: Introducing our Neonatal Crisis Panel
Published on
For your smallest patients in the most dire of circumstances, PreventionGenetics announces our new Neonatal Crisis panel. This panel includes both sequencing and copy number variant (CNV) analysis of 1757 genes associated with disorders with severe neonatal or early childhood onset (Kingsmore. 2012. PubMed ID: 22872815; Ceyhan-Birsoy et al. 2017. PubMed ID: 28079900).
Background
Many known monogenic diseases present early in life as severe neonatal or early childhood (less than 2 years old) illness. In the United States, such diseases account for ~20% of infant deaths and ~18% of pediatric hospitalizations (Kingsmore. 2012. PubMed ID: 22872815; Saunders et al. 2012. PubMed ID: 23035047). Recent studies have shown that 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 shortening 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).
In recent studies, thorough curation of clinically relevant genes has shown that only ~500-1000 genes are typically associated with the majority of the severe infant or early childhood onset genetic disorders (Kingsmore. 2012. PubMed ID: 22872815; Ceyhan-Birsoy et al. 2017. PubMed ID: 28079900). For this test, we have included the majority of the genes classified as Category A (genes with definitive or strong evidence to cause a highly penetrant childhood-onset disorder) from the most recent study by Ceyhan-Birsoy et al. (2017). In addition, we have included a number of nuclear genes that have been recently associated with mitochondrial disorders (Craven et al. 2017. PubMed ID: 28415858). Critically ill infants 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).
Reporting & Turnaround Time
Although this test is designed as a panel, due to the large number of genes and for best interpretation of the results, it is analyzed similar to a Whole Exome Sequencing Test, with trio testing of baby and both parents, being preferred.
Reports will consist of two different sections:
- Variants in genes known to be associated with phenotype
- Variants in genes possibly associated with phenotype
Reports will not include all the observed variants in the panel. While this panel is exome-based, we will NOT be reporting findings in genes outside of those within the panel.
We prioritize all neonatal illness tests in order to decrease our turnaround time as much as possible. The great majority of tests are completed within 14 days for sequencing results.
Ordering & Pricing
| Test Type | Total Price |
|---|---|
| Patient Only | $1,890 |
| Duo (Patient + 1 additional family member) | $2,290 |
| Trio (Patient + 2 additional family members) | $2,490 |
Testing should be ordered using the Neonatal Crisis Panel Test Requisition Form. Because this panel is exome-based, clients may reflex to our full PGxome® for $390.
If you would like to order a subset of these genes, please contact us to discuss pricing. If testing beyond a trio is desired, the sequencing cost per each additional family member is $390. Family members may request to receive their own test report for an additional $490 per individual.
Put us to the test.
References:
Ceyhan-Birsoy et al. 2017. PubMed ID: 28079900
Craven et al. 2017. PubMed ID: 28415858
Kingsmore. 2012. PubMed ID: 22872815
Meng et al. 2017. PubMed ID:28973083
Saudubray J-M and Cazorla AG. 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