What is ProviaTest?
ProviaTest is a new screening test that can determine if a person, usually a child, is at risk for a genetic condition that can cause a specific syndrome. The early detection generally allows to find a suitable therapy for the symptoms and thus to improve the outcome and quality of life of the child and his family.
ProviaTest is the first test available that allows to screen for sex chromosome anomalies and microdeletions in newborns.
Which conditions can be detected by ProviaTest?
ProviaTest can detect three types of conditions:
Several syndromes affect the metabolism and hormonal regulation. These are typically caused by a mutation of genes that code for specific proteins which are part of metabolic pathways. With panel MHD (metabolic and hormonal diseases) the altered proteins can be detected with high accuracy.
Various syndromes are caused by numeric alterations of the sex chromosomes.(X- or Y-chromosome). An affected person either has additional sex chromosomes or is lacking one. These syndromes are called sex chromosome anomalies or SCAs for short. The ProviaTest SCA Panel detects these syndromes.
Other syndromes can be caused, when small parts of a chromosome are missing. These syndromes are called microdeletions or MDs for short. The MD panel detects these syndromes.
Additional information on the development of SCAs and MDs can be found here.
A complete list of the syndromes detected by ProviaTest can be found in the tables below:
How frequent are the syndromes detected by ProviaTest?
The names of syndromes associated with SCAs are generally not so well-known. This is because most persons that are affected by these syndromes were never diagnosed. These individuals are therefore unaware of their own conditions and the cause of their health problems. Therefore, these syndromes are generally perceived to be quite rare, while actually they are quite frequent. One in 430 newborns is affected by an SCA and one in 750 newborns is affected by an MD, which are also oftentimes, not diagnosed either. Syndromes detected by the MHD panel are less frequent, but they are very damaging and can sometimes even be life-threatening, so that screening for them in newborns is essential.
Why can physicians easily miss to detect SCAs and MDs?
There are no typical facial characteristics associated with SCAs. In contrast, other genetic syndromes, e.g. Down Syndrome are associated with typical facial characteristics. This is one reason why SCAs are underdiagnosed compared to many other genetic syndromes. Another reasons why physicians often fail to diagnose SCAs is that they are associated with less severe symptoms than other genetic diseases. Visible physiological symptoms that might help to diagnose the syndromes more easily are often missing. Learning disorders or behavioral disorders, such as anxiety or a low tolerance for frustration are frequent, but generally less attention is paid to those symptoms, resulting in the observed underdiagnosis of SCAs.
What can you do if your child is diagnosed with one of these syndromes?
For all the syndromes screened by ProviaTest an early diagnosis enables a therapy of the associated symptoms which generally results in an improvement of the outcome and a significantly higher quality of life. Recommended therapies would typically be a learning therapy or psychological assistance in the case of SCAs and dietary changes with many MHDs.
Which children should be tested with ProviaTest?
Since rarely ever a newborn or older person displays a clear indication for an SCA or some MDs it is important to test every newborn for these syndromes. In the case of typically more severe MHDs often an irreversible damage can be caused if screening does not occur shortly after birth.
Is ProviaTest also suitable for older children and adults?
If you have an older child and want to make sure that he is not affected by an SCA or an MD syndrome ProviaTest is suitable as well. It might be helpful to rule out an SCA or MD using ProviaTest if your child develops slower than his peers or if you notice that your child has learning difficulties or if he has trouble connecting with other children.
Adults who suspect that they might be affected by an SCA or an MD can equally be tested with ProviaTest to clarify that suspicion.
Why should you have your child tested already early on?
The sooner you know that your child is affected by one of the tested syndromes, the better you can plan the next steps with your pediatrician. Some examples are listed below:
If your daughter is diagnosed with a Turner syndrome she may be at risk to suffer from a heart defect or a kidney malfunction. In this case your pediatrician will be able to regularly check these organs preemptively.
If your son has a Klinefelter syndrome, which is rather frequent, then he has a higher risk to have a reduced fertility later-on in his life. In this case you would may want to contact a specialist early on and discuss the possibility to extract and freeze possibly still available functional sperm cells early on. This way, it may still be possible for him to have own children later in his life despite the syndrome.
If your child is diagnosed with a 22q11.2 microdeletion, specific medical precautions need to be taken immediately. For example, your newborn could have a calcium deficiency resulting in seizures. In this case, your child would benefit from an immediate calcium administration.
If your child is diagnosed with Phenylketonuria his metabolism cannot handle a specific amino acid and is at risk to develop a severe mental disability and epilepsy. A diet low in certain proteins, given from the first days of life on, can prevent this from happening. A test for Pheynlketonuria is already included in most European public newborn screening programs.
These are only a few examples for the many benefits an early diagnosis has, if your child would be affected of one of the syndromes tested!
How does it work?
Your health care provider takes a DNA sample: a few drops of blood for the MHD panel and a non-invasive cheek-swab from the inner cheek of your child for the SCA and MD panels. The sample is returned to our lab in Germany, where the test is performed. You should generally receive your result within 2 weeks.