Early detection of genetic and metabolic disorders for a healthier start in life
Expanded Neonatal Screening
Bioscience Institute’s Expanded Neonatal Screening offers an advanced approach to the early detection of inherited and metabolic disorders in newborns.
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.
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.
Our Neonatal Screening Tests
Bioscience Institute provides the Expanded Neonatal Screening service through two types of tests: NEONATEST and NEONASEQ.
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.
BROCHURE NEONATEST
Technologies Offered for Expanded Neonatal Screening
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.
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
Timing and Report Delivery
Once the sample has been received by the Bioscience Institute laboratory, the analytical process is initiated immediately to ensure accurate and reliable results.
The average turnaround time for the Expanded Neonatal Screening is approximately 7 to 14 working days from the date the sample is received.
The laboratory performs a series of biochemical and molecular analyses to detect metabolic and genetic conditions included in the test panel.
Upon completion, the report is carefully reviewed by our clinical genetics team before being securely transmitted to the requesting physician and, if authorized, to the parents.
In case of positive or borderline findings, the family is promptly contacted by our medical staff to arrange confirmatory testing and provide clinical guidance.
Early identification and prompt communication of results allow rapid medical intervention and significantly improve the newborn’s prognosis.
When Neonatal Screening Test is recommended?
Expanded Neonatal Screening is a valuable preventive tool that can be offered to all newborns.
However, it is particularly recommended in cases where there may be a higher risk of genetic, metabolic, or hereditary disorders.
The test allows early identification of treatable conditions before symptoms appear, ensuring prompt medical intervention and better long-term outcomes.
Family history of genetic or metabolic disorders
(e.g., cystic fibrosis, phenylketonuria, or other inherited conditions)
(e.g., cystic fibrosis, phenylketonuria, or other inherited conditions)
Consanguinity between parents
which may increase the likelihood of recessive genetic traits
which may increase the likelihood of recessive genetic traits
Unexplained neonatal symptoms
such as hypotonia, persistent vomiting, hypoglycemia, or developmental delay
such as hypotonia, persistent vomiting, hypoglycemia, or developmental delay
Previous child affected by a congenital or metabolic condition
Premature or low birth weight infants
who may require closer metabolic monitoring
who may require closer metabolic monitoring
Parents seeking comprehensive preventive assessment
even in the absence of known risk factors
even in the absence of known risk factors
In-depth Information
Would you like to explore further or learn more? Access comprehensive explanations by expanding the sections below.
About INHERITED METABOLIC DISORDERS (MME)
Inherited metabolic disorders are rare genetic diseases that typically appear within the first days of life with non-specific symptoms, often mistaken for more common conditions. They are caused by the absence or deficiency of one of the enzymes responsible for proper cellular function. These conditions are transmitted with a 25% probability when both parents are healthy carriers.
They may evolve rapidly or progress slowly, and in both cases the consequences can be severe. Many of these disorders can be managed by eliminating from the diet the substances that produce the metabolites affected by the enzymatic defect, and by administering supplements or medications that help detoxify the body. Early diagnosis allows prompt treatment initiation and leads to a significant improvement in prognosis.
About SEVERE COMBINED IMMUNODEFICIENCY (SCID)
Severe Combined Immunodeficiency (SCID) is a group of rare, life-threatening genetic disorders that affect the immune system. It is characterized by a severely weakened or nearly absent immune response, leaving affected individuals highly susceptible to infections. SCID is sometimes referred to as the “bubble boy disease” due to the case of David Vetter, who lived in a sterile environment to avoid infections.
SCID is caused by mutations in various genes, leading to different forms of the disorder. These mutations primarily affect the development and function of T cells, B cells, and sometimes NK cells – all of which are crucial for a healthy immune system. Symptoms of SCID often appear during infancy, with recurrent infections, failure to thrive, and chronic diarrhea being common signs. Early diagnosis and treatment are crucial for improving the chances of survival.
Early diagnosis and intervention are crucial for improving the outcome of individuals with SCID. Newborn screening programs for SCID have been implemented in many countries to facilitate early detection and treatment.
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.
About LYSOSOMAL STORAGE DISEASES (LSDs)
Lysosomal Storage Diseases (LSDS) are a group of inherited metabolic disorders caused by defects in the function of lysosomes, which are specialized organelles found in cells.
Lysosomes contain enzymes that break down and recycle various cellular waste products, such as complex carbohydrates, lipids, and proteins. In lysosomal storage diseases, the dysfunction of one or more of these enzymes results in the accumulation of undigested or partially digested substances within the lysosome, leading to cellular damage and a wide range of clinical manifestations.
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.
