CentoICU® – the comprehensive NGS panel
CentoICU® is designed to diagnose genetic conditions that become present in the newborn or early childhood period. Many of these have overlapping phenotypes and diagnosis may have immediate implications for the treatment of newborns and children.
Why choose CENTOGENE?
What is CentoICU® ?
Newborns and children under 24 months presenting with life-threatening conditions need a fast and precise diagnosis to ensure rapid and efficient further diagnostic and therapeutic initiation.
Up to one-third of all babies and children admitted to the ICU have a genetic disease. For many of them early identification can make the difference for their immediate and later health.
CentoICU® is a comprehensive NGS panel that includes 810 genes, explicitly selected for the genetic testing of critically ill newborns and children under 24 months. It is designed to address multiple genetic conditions that may present in the newborn or first childhood period, many with overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of 810 genes and newborn-related diseases using dried blood spots.
When to recommend CentoICU® ?
CentoICU® allows clinicians to utilize one test to provide an accurate assessment for 810 newborn-related genes and associated genetic diseases using dried blood spots, and it provides fast delivery of the results in less than 10 business days.
CentoICU® is indicated for newborns and children under 24 months admitted to the ICU and presenting with unclear symptomatology which can be part of a genetic condition, i.e.
- Bleeding dyathesis
- Blood abnormalities (anemia)
- Bone fragility
- Failure to thrive
- Heart abnormality/arrhythmia
- Ichthyosis/epidermolysis bullosa
- Metabolic abnormalities*
- Abnormal newborn screening results**
- Respiratory failure
- Skeletal abnormalities/craniosynostosis
- Skin fragility
- Unclear seizures
*) Abnormal acylcarnitine profile, amino acidemia/urea, hyperbilirubinemia, hyper-/hypoinsulinism, persistent hypoglycemia, organic acidemia/urea
**) CentoICU® includes genes to cover all ACMG core panel phenotypes for newborn screening except hearing loss
What are the advantages of CentoICU®?
- Short TATs: 10 business days (CentoICU® FAST and CentoICU® Panel Genomic FAST ) or 15 business days (CentoICU® and CentoICU® Panel Genomic)
- Add-on option of CGH array CentoArray® possible to complement copy number analysis with high density array
- Exhaustive coverage of the coding regions within the 810 targeted genes
- Specialized technology that allows us to target genes that are clinically linked to the ACMG-recommended newborn screening conditions as well as conditions that have been nominated for the list
The table indicates the distribution of genes depending on HPO terms in 14 categories:
|Category||Number of genes+||% of genes+|
|Newborn screening ++||25||3,1|
|Skeletal and malformation||498||61,4|
+) Due to overlapping phenotypes, particular genes are listed in more than one category.
++) Covering all core panel phenotypes as recommended by ACMG for newborn screening except hearing loss.
What genes are included in CentoICU®?
CentoICU® is designed for analysis of 810 genes and more than 100 associated conditions/phenotypes. The list of included genes was developed by our expert medical team based on several selection criteria, i.e.:
- Early onset
- Severe disease
- ICU related symptomatology
- Diseases/syndromes of differential diagnostic value
We will be happy to provide detailed information on the genes within CentoICU™ panel related to a specific set of HPO terms on request.
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
CentoICU®: NGS panels for the early and fast diagnosis of critically ill newborns & children under 24 months
Genetic disorders are diseases with the most complex presentation of the most diverse symptoms and also the most severe disease courses. A precise diagnosis of the underlying condition is especially important in serious…