CentoICU™ – Genetic Testing for Newborns, Infants and Children
Up to one-third of all babies and children admitted to an intensive care unit present with a genetic disease1. Genetic testing is an essential part of their diagnosis and care.
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What causes rare genetic disorders in young children?
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.
How does genetic testing help?
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.
How is it tested?
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.
What a positive result means
About 3–4% of newborns will test positive for a genetic disease or major birth defect2. This result 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 and explain how the condition may affect your child as it grows and develops.
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; only then do you have the chance 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
- Wilcken B, Wiley V. Fifty years of newborn screening. J Paediatr Child Health. 2015 Jan;51(1):103-7. http://www.ncbi.nlm.nih.gov/pubmed/25586852
Consult your doctor
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 of the following 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, to ensure that you have access to full support and backup to make informed decisions about your future healthcare.