Expanded Metabolic Screening Test

The expanded metabolic screening allows for the early diagnosis of rare genetic diseases before they can cause serious harm to the child. These rare genetic diseases, mostly metabolic in nature, appear in the first days of life but are not easily diagnosable; their symptoms are rather generic and are often mistaken for those of more common illnesses.

Many countries around the world have implemented mandatory programs for the neonatal screening of metabolic diseases. By enabling early diagnosis, neonatal metabolic screening allows for the establishment of effective therapy before these diseases can cause serious harm to the child, especially at the neurological level.

Bioscience Institute provides the Expanded Neonatal Screening service through two types of tests: NEONATEST and NEONASEQ.

Brochure NeonaTest

Brochure NeonaSeq

Information on the genetic diseases investigated

Inherited Metabolic Diseases (IMDs)

Inherited Metabolic Diseases (IMDs) are rare genetic disorders that are not easily diagnosable; they manifest in the first days of life with generic symptoms that are often mistaken for those of more common diseases. They may have a rapid evolution or progress slowly; in both cases, the effects are as severe as they are irreversible.
At their root is the absence or deficiency of one of the enzymes responsible for the proper functioning of metabolism. If both parents are healthy carriers, the probability of transmission to each child is 25%.
Many of these conditions can be treated by eliminating from the diet the sources of the metabolites involved in the enzyme block and by administering supplements or medications that help to detoxify the body. In other cases, treatment may include, for example, the use of orphan drugs (not distributed by the pharmaceutical industry), enzyme replacement therapies, organ or hepatocyte transplants.
Early diagnosis allows for the prompt initiation of these therapies and prevents the onset of severe damage; on the other hand, a delay in recognizing the disease can lead to an irreversible worsening of the prognosis.

Severe Combined Immunodeficiencies (SCID)

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

Lysosomal storage diseases (LSD)

Lysosomal storage diseases are caused by an alteration of any of the functions of the lysosomes (organelles responsible for the degradation and recycling of materials produced by cellular metabolism) and, in particular, by a deficiency or malfunction of the enzymes responsible for their activities.

Newborn Sample Collection Method

The collection of the sample for the Neonatal Screening test can be performed at the same time as the mandatory blood draw carried out by law, in Italy, in the hospital. The collection of a few drops of blood from the newborn’s heel is performed using a spring-loaded device that minimizes discomfort and makes the procedure easier for the operator. The drops are absorbed onto a special cardboard support (filter paper), which is then sent to the laboratory for analysis.

The staff of any healthcare facility is qualified to collect blood samples for Neonatal Screening; if discharge occurs before 48 hours after birth, the sample can be collected by the pediatrician. It is essential that the collection procedure is performed correctly, as described below.
The technique involves a heel prick and the collection of one drop of blood for each circle on the card. After collection, the card must be completed, placed in the envelope provided by Bioscience Institute, and sent back to the Bioscience Institute headquarters, which will carry out the screening test.

Technologies Offered for Expanded Neonatal Screening

Tandem-Mass Spectrometry

Tandem mass spectrometry is a diagnostic method that makes it possible to measure, starting from a single drop of blood, the substances produced during the chemical reactions involved in the oxidation of nutrients. In a patient with enzyme deficiencies, these chemical reactions can lead to the excessive accumulation of a toxic substance or the absence of a substance necessary for the body. Through tandem mass spectrometry, about 60 substances—called metabolites—involved in inherited metabolic diseases can be identified and measured.

Next Generation Sequencing (NGS)

Next Generation Sequencing (NGS) is an advanced DNA sequencing technology that allows the rapid analysis of millions of fragments of genetic material in a single operation. Unlike traditional sequencing, NGS uses parallel processes to read multiple sequences simultaneously, enabling the identification of mutations, genetic variants, and genomic profiles with high precision.
With this next-generation technology, more than 260 diseases associated with 246 genes can be identified, including:

diseases of the auditory system
endocrine and metabolic diseases
diseases of the immune system
neuromuscular diseases
blood diseases

Neonatal Screening Tests Offered by Bioscience Institute

NEONATEST

NEONATEST is an expanded neonatal screening that can help identify certain rare genetic diseases in the first days of life and promptly establish therapy before they can cause serious harm to the child. The analysis is performed on a few drops of blood taken from the newborn’s heel using a dedicated device. The integrated approach of Tandem-mass technology with biochemical and biomolecular techniques enables the evaluation of a large number of genetic diseases.
Through NEONATEST screening, Inherited Metabolic Diseases caused by the lack of production of important enzymes or the inability to use essential substances for life are assessed. Currently, only three diseases are subject to mandatory neonatal screening in Italian hospitals: phenylketonuria, congenital hypothyroidism, and cystic fibrosis. With the expanded metabolic screening by Bioscience Institute, it is possible to promptly detect up to 55 conditions.

NEONATEST Plus

At the request of the parents, it is possible to ask Bioscience Institute to expand the scope of the NEONATEST in order to also examine the presence of two additional categories of conditions: severe congenital immunodeficiencies (SCID) and lysosomal storage diseases (LSD).

NEONASEQ

NEONASEQ is a genetic test for expanded neonatal screening of diseases that can affect various body systems and organs. These are highly disabling, sometimes life-threatening diseases that can have serious consequences for the health of the newborn, especially if they are not identified and treated early. Thanks to next-generation DNA sequencing technology, it is now possible to take a small blood sample from the newborn’s heel as early as the first day of life and analyze it to identify more than 260 diseases.
NEONASEQ can detect more than 10,000 genetic variants associated with endocrine, metabolic, immune system, neuromuscular, blood, auditory system diseases, and more. If properly diagnosed and treated, the prognosis for the newborn can be significantly improved, also helping to reduce the impact of the disease on the family.

Request Expanded Neonatal Screening

Contact Bioscience Institute to find the nearest center where you can book the NEONATEST or NEONASEQ test, or simply fill out the request form to be contacted—without any obligation—by one of our expert biologists.

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Expanded Metabolic Screening