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StepOne ® Neonatal Screening

The expanded metabolic screening enables the early detection of rare genetic diseases, before they can cause serious harm to the baby. These rare, mainly metabolic, genetic disorders occur in the first days after birth, but are not easily diagnosed; the rather generic symptoms are often confused with those of more common diseases.

Many countries around the world have initiated mandatory neonatal screening programs for metabolic diseases. By enabling their early diagnosis, neonatal metabolic screening allows for effective therapy establishment before serious damage to the baby, especially at the neurological level.

Bioscience Institute provides the StepOne® Expanded Neonatal Screening service, which allows for investigating the presence of over 50 disorders.

What are Inherited Metabolic Disorders?

Inherited Metabolic Disorders (IMDs) are rare genetic diseases that are not easily diagnosed. They occur in the first days of life with a generic symptomatology that is often confused with that of more common diseases. They can evolve rapidly, or progress slowly; in both cases, their effects are as serious as irreversible.

They are caused by the absence or the deficiency of one among the enzymes responsible for proper metabolism functioning. If both parents are healthy carriers, the probability of transmission to each child is 25%.

Many of these disorders are treatable by excluding from the diet the sources of the metabolites involved in the enzyme block and by administering supplements or drugs that help purify the body. Sometimes the treatment may include, for example, the use of orphan drugs (not distributed by the pharmaceutical industry), enzyme replacement therapies, organ transplants, or hepatocytes. An early diagnosis allows for quickly starting these therapies and preventing serious damage; on the contrary, a delay in the recognition of the disease can lead to an irreversible deterioration of the prognosis.

How to collect the sample

Blood for the StepOne® Neonatal Screening can be sampled at the hospital. A small prick on the heel and the collection of a few drops of blood enable the diagnosis of several genetic diseases.

The staff of any healthcare facility has the skills to carry out the blood sampling for the StepOne® Neonatal Screening; in case of discharge before 48 hours from birth, the sample can be taken by the pediatrician. It is essential that the collection procedure is carried out correctly, as indicated below.
The technique involves a prick on the heel and the collection of a drop of blood for each of the circles on the StepOne® card. After collection, the StepOne® card must be filled in, put in the envelope provided by the Bioscience Institute, and returned to the Bioscience Institute headquarters, which will ship it to the United States at the PerkinElmer Genetics laboratory, which will carry out the screening.

StepOne® Tandem-Mass Methodology

Tandem-mass spectrometry is a diagnostic methodology that enables the quantification of the substances produced during the chemical reactions of nutrient oxidation starting from a drop of blood. In the case of enzyme deficiencies, these chemical reactions can cause the accumulation of a toxic substance, or the lack of a needed substance. Through tandem-mass spectrometry, PerkinElmer Genetics laboratories detect and quantify almost 60 substances (metabolites) that are involved in hereditary metabolic diseases.

What to do if the screening tests positive

If the screening tests positive, PerkinElmer Genetics laboratories will carry out diagnostic investigations through biomolecular analysis. Usually, a metabolic disorder correspond to a genetic alteration, which is almost always caused by a mutation. Thanks to the use of the most sophisticated diagnostic technologies, PerkinElmer Genetics is able to carry out tests enabling their very rapid identification.

The available in-depth levels


The StepOne® panel includes Inherited Metabolic Disorders caused by the missed synthesis of important enzymes or the inability to use substances that are essential for life. Currently, only a few diseases are included in a mandatory neonatal screening in some Countries (for instance, in Italy they are only three: phenylketonuria, congenital hypothyroidism, and cystic fibrosis). Bioscience Institute’s expanded metabolic screening allows for the timely detection of  up to 55 diseases.


Parents can ask the Bioscience Institute for a more in-depth level of investigation in order to examine the presence of two more categories of pathologies: Severe Combined ImmunoDeficiency (SCID) and Lysosomal Storage Diseases (LSDs).

SCID (Severe Combined ImmunoDeficiency)

SCID comprises a group of diseases (caused by at least 13 genetic defects) in which the immune system is severely compromised, to the point that the body is unable to defend itself against infectious agents. They generally manifest from the first months of life,  with recurrent infections characterized by a particularly aggressive course.

LSDs (Lysosomal Storage Diseases)

Lysosomal storage diseases are caused by an alteration of any of the functions of lysosomes (organelles responsible for the degradation and the recycling of cell metabolism products). In particular, they are associated with the deficiency or the malfunctioning of the enzymes responsible for their activity.

Request the StepOne® Neonatal Screening

Request now a free consultation for STEPONE®, the expanded metabolic screening for the early rare genetic disorder diagnosis in the newborn. Email or fill out the form below to be contacted by one of our experts.

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