Up to one-third of all babies and children admitted to the ICU have a genetic disease. For many patients, early identification can make a difference in their immediate and long-term health.
CentoICU enables clinicians to use a single test to provide an accurate assessment for newborn-associated genetic diseases using dried blood spots (DBS). CentoICU is a comprehensive Next Generation Sequencing (NGS) panel that includes more than 800 genes. It is addresses multiple genetic conditions with overlapping phenotypes and has immediate implications for treatment.
Designed for quick and early diagnosis of critically ill newborns and children under 24 months in intensive care units (ICUs), we can deliver results in less than 10 business days.
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
Severe symptoms or illness in newborns and young children can be due to rare changes in the child’s genetic makeup which occur before they are born. These changes can produce complex, often life-threatening conditions affecting one or more regions of the body, such as skin, heart, lungs, muscle, bones, blood system or the body’s metabolism. The severity and outcome for the child can vary dramatically.
Up to one-third of all babies and children admitted to an intensive care unit present with a genetic disease1. For many of them, early identification can make a big difference to their immediate and long-term health. Undiagnosed rare genetic disorders can be life-threatening. A fast and precise diagnosis of an underlying genetic condition can be vital. Genetic testing early on can provide a much needed diagnosis, help to gauge the severity of a disease, identify the best ways to proceed with the child’s immediate and long-term treatment, and establish the risk and nature of any further health issues.
Where a critical or rare genetic disorder is a probable cause, genetic testing can be performed on a small blood sample from the child. The best technology and medical expertise are used to analyze the child’s DNA in over 800 genes associated with over 100 conditions in just one test. It is also possible to test for significant genetic changes not associated with known diseases. The results are carefully interpreted and reported to your doctor – helping to provide your child with a clear diagnosis.
CentoICU is designed to analyze 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
To see the full list of genes, download our brochure.
CentoICU is recommended for newborns and children under 24 months admitted to the ICU who present with unclear symptoms that may indicate a genetic condition. For example:
- 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 that cover all ACMG core panel phenotypes for newborn screening except hearing loss
The results will enable your doctor to assess the extent and severity of the disorder and discuss the best options with you for their treatment and care.
The quality of a child’s life can be greatly impacted by early detection; some very serious disorders can be avoided if the proper treatment is started immediately. Although in some cases treatment options are limited, a diagnosis can bring much needed clarity. Early detection allows you to work closely with your doctor to help you and family members cope with the result and make informed decisions.
Wren C, Irving CA, Griffiths JA, O'Sullivan JJ, Chaudhari MP, Haynes SR, Smith JH, Hamilton JR, Hasan A. Mortality in infants with cardiovascular malformations. Eur J Pediatr. 2012 Feb;171(2):281-7. http://www.ncbi.nlm.nih.gov/pubmed/21748291
The information obtained from genetic testing can have a profound impact on your life. Prior to any genetic testing, we strongly recommend that you seek genetic counseling to understand more about which testing options might be beneficial for you and your family members. Genetic counseling is also recommended to help you understand your genetic test results and their implications for other family members.
At CENTOGENE, we only accept genetic tests ordered by a doctor on your behalf. As genetic testing and test results are complex, we want to ensure that you have access to full support to help you make informed decisions about genetic testing and your future healthcare.