CentoICU – For the Earliest and Fastest Diagnosis
For the earliest and fastest diagnosis of critically ill newborns and children under 24 months in intensive care units (ICU).
CentoICU is designed to diagnose genetic conditions that manifest in newborns or in early childhood. Many of these conditions have overlapping phenotypes and diagnosis may have immediate implications for the treatment.
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 more than 850 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 newborn-related diseases.
Why Choose CentoICU?
Minimal sample requirement (just 0.5 ml blood, 1 µg DNA or 1 filter card)
Screening of more than 850 genes associated with over 100 conditions
Short turnaround times – ten business days is possible
World-class medical reports interpreted by expert human geneticists
What Are the Advantages of CentoICU?
Turn around time
Short TATs: 10 business days (CentoICU FAST) or 15 business days (CentoICU)
Add-on
Option to add CentoArrayCyto® to complement copy number analysis
coding regions
Comprehensive coverage of coding regions known to cause diseases in newborns
Specialized technology
Screens newborns for all ACMG-recommended conditions and those nominated for inclusion.
When Is CentoICU Recommended?
CentoICU allows clinicians to utilize one test to provide an accurate assessment for newborn-related genes and associated genetic diseases using dried blood spots, and it provides fast delivery of the results in less than 15 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
- Hepatospenomegaly
- Hypotonia
- Ichthyosis/epidermolysis bullosa
- Metabolic abnormalities*
- Microcephaly
- Neutropenia
- 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
Disorders With Potential Direct Therapeutic Consequences
| Disorder* | Genes |
|---|---|
| Alagille syndrome | NOTCH2, JAG1 |
| Alpha-Thalassemia | HBA1, HBA2 |
| Arginase deficiency | ARG1 |
| Beta-Thalassemia | HBB |
| Biotinidase deficiency | BTD |
| Biotin-thiamine-responsive basal ganglia disease | SLC19A3 |
| Carnitine deficiency | SLC22A5 |
| Cystic Fibrosis | CFTR |
| Dystonia DOPA responsive | GCH1 |
| Factor VII deficiency | F7 |
| Glucose transporter 1 deficiency | SLC2A1 |
| Glutaric acidemia Type 1 | GCDH |
| Hemophilia A | F8** |
| Hemophilia B | F9 |
| Hereditary Fructose intolerance | ALDOB |
| Holocarboxylase synthetase deficiency | HLCS |
| Maple syrup urine disease (MSUD) | BCKDHA, BCKDHB, DBT |
| Non ketotic hyperglicinemia | GLDC |
| Phenylketonuria | PAH |
| Pompe disease | GAA |
| Primary coenzyme Q10 deficiency | COQ8A |
| Pyridoxamine 5 phosphate oxidase deficiency | PNPO |
| Pyridoxine-dependent epilepsy | ALDH7A1 |
| Pyruvate carboxylase deficiency | PC |
| Tuberous sclerosis complex | TSC1 |
| Tuberous sclerosis complex | TSC2 |
| Tyrosinemia Type I | FAH |
| VLCAD deficiency | ACADVL |
*List does not include all disorders covered by our panel
**This panel does not detect intronic inversions for F8
What Genes Are Included in CentoICU?
CentoICU is designed for analysis more than 850 genes associated with over 100 conditions. 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
Resources
Quick Links
Downloads
CentoICU Brochure
Because life begins today
Scientific Publications
Development of an Evidence-Based Algorithm that Optimizes Sensitivity and Specificity in ES-Based Diagnostics of a Clinically Heterogeneous Patient Population
Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying […]
Evidence-Based Algorithm in ES-Based Diagnostics
Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying […]
Clinical and Genetic Characteristics of Sporadic Adult-Onset Degenerative Ataxia
The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure […]
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