NOVA™ Newborn Genetic Screening
A comprehensive genetic test that identifies the risk of 112 genetic disorders and 254 subtypes before symptoms appear. The test enables timely preventive medical action and provides valuable information for future family planning.
Not all genetic conditions are detectable at birth
Each year, around 6% of babies worldwide are born with genetic defects, yet many appear completely healthy at birth. Even in families with no history of genetic disease, a child may inherit a severe genetic condition. Often, the disorder becomes apparent only later – when symptoms may already be irreversible. Early NOVA™ newborn genetic screening helps identify disease risk before symptoms develop, allowing parents and clinicians to take preventive action – from dietary adjustments to initiating treatment.
What does NOVA™ newborn genetic screening detect?
NOVA™ enables early assessment of a baby’s genetic disease risk before the first symptoms appear. The test covers 246 genes and evaluates the likelihood of 112 genetic disorders (254 subtypes). This is a significantly more comprehensive assessment than the standard state-funded screening, which typically includes only 12 disorders.
Metabolic disorders
Endocrine system disorders
Muscular and movement disorders
Blood and immune system disorders
Other inherited conditions with symptoms that appear later
Prevention starts with knowing
NOVA™ newborn genetic screening allows parents and doctors to act before symptoms appear. It not only provides reassurance, but also enables timely treatment initiation or adjustments to newborn care.
Early disease detection
The test helps detect genetic disorders before symptoms become evident – helping to avoid potential complications or irreversible damage.
More than 20 times broader disease coverage
NOVA™ identifies 112 genetic disorders and 254 subtypes, offering far broader assessment than state-funded programmes (12 disorders).
Support for family planning
Results provide a basis for genetic counselling, which can be useful when planning additional children or addressing inheritance-related questions.
Simple and early sample collection
Only a few drops of blood from the newborn’s heel are needed – the sample can be taken immediately after birth, without waiting several days.
When and for whom is the test recommended?
For all newborns, even if there is no family history of genetic disease
Most genetic conditions occur in babies born into families with no known history. Early screening helps identify risks in time.
For parents who want to give their child the best possible start
Early detection of genetic changes enables immediate preventive action – dietary adjustments, treatment, or monitoring.
For babies with a family history of genetic disorders
Screening can help resolve uncertainties sooner or identify potential inherited health conditions.
When planning further family expansion
Results provide valuable information for genetic counselling and can support informed decisions when planning future children.
NOVA™ reliability: accuracy and quality metrics
The test is performed using next-generation sequencing (NGS) technology, ensuring very high sensitivity for detecting even the smallest genetic changes. The genetic analysis is based on a database of more than 10,000 pathogenic or likely pathogenic variants, selected in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG).
Database of 10,000 pathogenic or likely pathogenic variants
246 genes analysed
112 genetic disorders and 254 subtypes assessed
Comprehensive genetic assessment of your baby’s health
Take the NOVA™ newborn screening test and find out whether your baby has a risk of inherited disorders.
For Specialists
All key information in one place – from the genes analysed to test accuracy and clinical value. This section is intended for specialists who want a detailed understanding of the test rationale, structure, and practical applications.
NOVA™ newborn genetic screening makes it possible to identify genetic changes before clinical symptoms appear. This enables timely preventive or therapeutic action and helps reduce the risk of long-term complications.
The NOVA™ test is based on a database of more than 10,000 pathogenic and likely pathogenic variants compiled in accordance with ACMG guidelines, ensuring reliability and clinical value.
Using next-generation sequencing methods, NOVA™ detects various genetic changes: single-nucleotide variants, copy number changes, small insertions or deletions (<20 bp), and exon-level deletions or duplications in certain genes.
Unlike state-funded screening covering 12 disorders, NOVA™ analyses 246 genes associated with 112 genetic disorders and as many as 254 subtypes – significantly expanding diagnostic capabilities.
Only a few drops of blood from the newborn’s heel are required and can be collected immediately after birth, without waiting until day 3–4 of life. The final result is provided within no more than 21 business days from receipt of the sample.
