BabyGen
Genomic knowledge from the very first breath.
BabyGen combines whole genome sequencing with targeted clinical assessment of 612 selected genes. It aims to identify serious inherited conditions early, where knowledge from the beginning of life can support prevention, monitoring or treatment.
BabyGen in collaboration with IASO
Since September 2025, NeoScreen has collaborated with IASO on the BabyGen programme. This collaboration has established a seamlessly coordinated process, from sampling and analysis to assessment of findings and communication with the family.
Our team is available to communicate with parents 24 hours a day, 7 days a week (24/7), providing clear information and support at every stage of the process.
The BabyGen journey
Dried blood spot
Blood collected on a special card.
WGS
Whole genome sequencing.
612 genes
Targeted clinical interpretation.
Care
A report and appropriate next steps.
What the DNA sequence reveals about the selected genes.
What the metabolic markers of newborn screening reveal.
BabyGen complements established newborn screening. Confirmation and additional tests are arranged where needed.
Early knowledge creates time for care
A newborn may appear healthy before an inherited condition becomes apparent. BabyGen looks for genetic findings with practical clinical significance, giving the family and paediatrician the opportunity to organise the next steps early.
The value of the test lies in connecting a finding with the appropriate medical action: confirmation, referral to the right specialist, personalised monitoring and, where available, treatment. Each result is assessed in the context of the individual child.
Sources & evidence ↓What BabyGen examines
WGS provides a broad foundation of genomic data. BabyGen's clinical interpretation focuses on 612 genes, selected for their association with serious conditions and their potential to inform meaningful clinical care.
The gene list, variant categories and reporting criteria define the actual scope of the test. Sequencing the genome does not mean that every possible finding is interpreted or that every condition is screened for.
Inherited conditions
Serious conditions associated with the genes selected for the programme.
Metabolic disorders
Genetic information considered alongside biochemical findings and the clinical presentation.
Rare syndromes
Targeted investigation of conditions where early identification can change care.
Carrier findings
Carrier status is reported according to BabyGen's scope and reporting policy, with a clear distinction from a diagnosis of disease.
Genomic and biochemical screening together
DNA and biochemical markers provide different, complementary information. Genomic analysis examines the DNA sequence. Biochemical screening assesses metabolic characteristics that may reflect how the body functions.
BabyGen complements established newborn screening. Participation in the programme does not replace the baby's other tests or routine paediatric follow-up. Combining the information helps the treating clinician assess a finding more fully.
Two complementary perspectives on the same child
From sample to clinical interpretation
The process begins with information about the purpose of the test, the scope of analysis and the possible outcomes. Correct sample identification and sharing relevant medical history are part of ensuring a reliable test.
01 · Information and consent
Parents receive information about the test, reporting of findings, and management of samples and data.
02 · Sample collection
A few drops of blood on a special card, following NeoScreen's sampling instructions.
03 · WGS and assessment
Sequencing, quality control and clinical interpretation within the selected scope of 612 genes.
04 · A clear report
A results report explaining the reported findings and the appropriate next steps.
05 · Support
Communication with the family and treating clinician, with coordination of confirmatory testing where needed.
A coordinated process centred on the family
Instructions, identification and correct collection.
WGS and targeted assessment.
Interpretation and next steps.
Guidance for the family.
What the result means
The report explains whether a clinically significant finding was identified within the scope examined, and how it relates to the pattern of inheritance and the clinical presentation. When carrier status is reported, its significance for the child and family is explained.
A newborn screening finding may require confirmation and further assessment before a diagnosis is made. Equally, a result with no reported abnormal finding does not exclude every genetic or other condition. New symptoms should be assessed by the paediatrician regardless of previous screening.
Sources & evidence ↓A critical finding: prompt communication and a clear next step
NeoScreen connects laboratory information with the clinical team. When a critical finding arises, parents and treating clinicians are informed promptly so that confirmation and appropriate referral can be arranged.
The information is accompanied by a specific plan for investigation and monitoring, tailored to the finding. The family therefore knows who will guide them and what happens next.
Sources & evidence ↓When a deeper investigation is needed
In selected cases, understanding a finding requires more than DNA analysis. Where there is a clear clinical indication, RNA sequencing may follow to investigate expression or splicing, along with metabolomic analysis to connect the genome with the metabolic phenotype.
These additional tests are selected case by case and arranged as the next diagnostic step. They are not required for every newborn and are not an automatic extension of every BabyGen test.
Sources & evidence ↓Knowledge develops — interpretation can be updated
New gene–disease associations or new clinical information may change the assessment of a case. Reanalysis revisits available genomic data using updated scientific knowledge and a different clinical question.
This option is discussed with the NeoScreen team, subject to data availability, consent and the applicable data management framework. Reanalysis does not mean automatic lifelong monitoring.
Sources & evidence ↓Frequently asked questions
When can BabyGen be performed?
The test is designed for the neonatal period. Sample collection is organised with the maternity hospital or NeoScreen team to ensure that the appropriate instructions are followed.
How long does the report take?
The indicative turnaround time is approximately three weeks. The estimated time is confirmed when the sample is received, particularly if additional analysis or confirmation is required.
Is it the same as established newborn screening?
BabyGen adds genomic information and complements biochemical newborn screening. The baby's recommended screening tests continue as usual.
Does a carrier finding mean that the child has the condition?
Carrier status and disease are different concepts. The significance of a finding depends on the gene, variant and inheritance pattern, and is explained during clinical assessment.
Are RNA sequencing and metabolomics included for every baby?
They are targeted next steps when there is a clinical indication. The team explains what is needed in the individual case and arranges further investigation.
Can I find out which genes are analysed?
You can request NeoScreen's current list of 612 genes and information about the scope of analysis and reporting criteria.
Sources & scientific evidence
Service description: NeoScreen information brochure, October 2026 edition, pp. 4–5. Additional process information comes from the detailed Carrier Screening & BabyGen brochure. Gene counts follow the updated edition.
Knowledge becomes care.NeoScreen · 5,000+ WGS / WES analyses
Scientific Director: Ioannis L. Loukas, Professor, National and Kapodistrian University of Athens
Talk to us about BabyGen
Learn about sample collection, the scope of the test and coordination with your paediatrician.
