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CentoICU® – for the earliest and fastest diagnosis
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 more than 800 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.
When to recommend CentoICU® ?
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 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
- 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
What are the advantages of CentoICU®?
- Short TATs: 10 business days (CentoICU® FAST) or 15 business days (CentoICU®)
- Add-on option of CentoArrayCyto® possible to complement copy number analysis with high density array
- Exhaustive coverage of the coding regions
- 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
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 800 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