Newborn-Screening
In most countries, newborns are generally screened for rare but dangerous metabolic and hormonal diseases. For this purpose, a few days after birth some drops of blood are taken from the newborn’s heel and analyzed in specialized laboratories. Phenylketonuria may be the disease that is most well-known by its name. An enzymatic defect prevents a certain amino acid from decomposing and therefore it enriches in the body. To prevent this harmful enrichment the patients must maintain a strict diet, low in this amino acid. The newborn screening programs differ by country in number and nature of the screened syndromes.
ProviaTest offers a panel of 39 metabolic and hormonal diseases plus Cystic Fibrosis in collaboration with Heidelberg University Hospital screening center. ProviaTest additionally provides for an extension of newborn screening to SCAs and microdeletions which otherwise would not be diagnosed in many cases.
Why Get Tested?
To determine if a person, usually a child, is at risk for a genetic condition that can cause a specific syndrome.
When To Get Tested?
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
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 (SCA) or sex chromosome aneuploidies for short. The ProviaTest sex chromosome aneuploidy (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
How frequent are the syndromes detected by ProviaTest?
The names of syndromes associated with sex chromosome aneuploidies 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 sex chromosome aneuploidy 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
SCA PANEL
Name of Syndrome
Frequency
Klinefelter Syndrome (47, XXY)
One in 580 boys
Triple X Syndrome
One in 950 girls
Jacobs Syndrome
One in 850 boys
Turner Syndrome
One in 1900 girls
XXYY Syndrome
One in 18.000 boys
Klinefelter Syndrome (48,XXXY)
One in 20.000 boys
Klinefelter Syndrome (49,XXXXY)
Newborn effected in total
One in 430 babies
Microdeletion Panel
Name Of Microdeletion Syndrome
1p36 MD syndrome MECP2 duplication syndrome
MECP2 duplication syndrome
2p16.1-p15 MD syndrome
Miller-Dieker syndrome
2q23.1 Mdsyndrome
NF1 MD syndrome
3q29 MD syndrome
Phelan-McDermid syndrome
9q22.3 MD syndrome
10p13-p14 MD syndrome
Prader-Willi syndrome
17q21.31 duplication syndrome
Rett syndrome
22q11.2 MD syndrome
Rubinstein-Taybi syndrome
Alagille syndrome
Saethre-Chotzen syndrome
Angelman syndrome
Smith-Magenis syndrome
Cri-du-Chat syndrome
Sotos Syndrome
DiGeorge syndrome-2
WAGR syndrome
Distal 22q11.2 deletion syndrome
Williams-Beuren syndrome
Glass syndrome
Witteveen-Kolk syndrome
Koolen-de Vries syndrome
Wolf-Hirschhorn syndrome
Langer-Giedion syndrome
Metabolic Panel
Adrenogenital Syndrome
HMG-CoA-Lyase-Deficiency
Argininosuccinatlyase-Deficiency
Hypothyroidism
Biontinidase Deficiency
Isolated Methylmalonaziduria...
Carnitine Metabolism Deficiencies
... (mut0-, mut--, CblA-, CblB-Defects)
Carnitin-Transporter-Defect
Isovaleric acidemia
Cbl C-, D-, F-, J-, Transcobalamin-II-Defects
LCHAD* Deficiency
Cbl-D-Hcy, Cbl E-, G-Defects
Maple Syrup Urine Disease (MSUD)
Citrullinemia Typ I MCAD Deficiency
MCAD Deficiency
Classic Homocysteinuria
MTHFR-Deficiency
Cong. Vitamin B12-Deficiency
Multiple Acyl-CoA DH-Deficiency (MADD)
Cystic Fibrosis
Phenylketonuria
Galactosemia
Propione aziduria
Glutaric Aciduria type I
Tyrosinemia Type I
VLCAD Deficiency
Why can physicians easily miss to detect sex chromosome aneuploidies and microdeletions?
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 SCAsand dietary changes with many MHDs.
