New Born Screening Tests

New Born Screening Tests


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.


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



Name of Syndrome


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)

One in 20.000 boys

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

Phelan-McDermid 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

Name of Syndrome

Adrenogenital Syndrome




Biontinidase Deficiency

Isolated Methylmalonaziduria...

Carnitine Metabolism Deficiencies

 ... (mut0-, mut--, CblA-, CblB-Defects)


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


Cong. Vitamin B12-Deficiency

Multiple Acyl-CoA DH-Deficiency (MADD)

Cystic Fibrosis



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.

Contact Specialist