NewbornDx™ Advanced Sequencing Evaluation

Targeted gene panel saves valuable time for fragile NICU Patients

Critically ill newborns represent some of our most fragile patients and every minute counts to reach an accurate diagnosis. With an extensive 1,722 gene panel, the NewbornDx™ Advanced Sequencing Evaluation can help expedite diagnosis and treatment in less than half the time, and for a fraction of the cost.1
 
Expedite diagnosis
In comparison to more than ten recent published exome and genome studies having sequence data, NewbornDx includes 80%-100% of disease-causing genes identified in the studies—the highest diagnostic yield of several commercially available panels for NICU patients.1-9
 
When every minute counts
Receive a targeted, clinically actionable panel of results within 5-7 days, specifically designed for conditions that are often present in NICU/PICU patients.
 
Shortened NICU stays
The average NICU stay can cost $76,164 and typically lasts 13.2 days.10 Shortening that stay by even one day can have significant economic and emotional benefits for families.
 
Patient-friendly collection
Testing can be completed with non-invasive blood spot collection. Parental samples can include whole blood, blood spot, or saliva options.
 
NewbornDx™ also features:
 
• Proband, duo, or trio testing options to decrease the number of variants of unknown significance and reduce the need for follow-up testing
 
• A mean coverage of 330X and 99.4% of bases covered at greater than 20X
 
Complete list of genes included
The NewbornDx™ Advanced Sequencing Evaluation can help you diagnose a majority of the genetic causes found through an exome or genome panel in less than half the time. Click here to download the complete list of genes.

Useful Resources

Brochure
Order Kits

Test Details

NewbornDx™ Advanced Sequencing Evaluation, Proband
NewbornDx™ Advanced Sequencing Evaluation, Family Member
 

References
1. Meng L, Pammi M, Saronwala A, et al. Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr. 2017;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438
2. Petrikin JE, Cakici JA, Clark MM, et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018;3:6. doi: 10.1038/s41525-018-0045-8
3. Quinlan-Jones E, Lord J, Williams D, et al. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. Genet Med. 2018. doi: 10.1038/s41436-018-0298-8
4. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6(265):265ra168. doi: 10.1126/ scitranslmed.3010076
5. Stark Z, Tan TY, Chong B, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18(11):1090-1096. doi: 10.1038/gim.2016.1
6. Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, et al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017;25(2):176-182. doi: 10.1038/ejhg.2016.146
7. Vissers LELM, van Nimwegen KJM, Schieving JH, et al. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017;19(9):1055-1063. doi: 10.1038/gim.2017.1
8. Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015;3(5):377–387. doi: 1016/S2213-2600(15)00139-3
9. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18):1870-1879. doi: 10.1001/jama.2014.14601
10. March of Dimes. National Perinatal Information Center: Quality Analytic Services. Special Care Nursey Admissions. https://www.marchofdimes.org/peristats/pdfdocs/nicu_summary_final.pdf. Accessed April 18, 2019.