ViennaLab
The importance of screening newborns
23. januar 2026
Newborn screening (NBS) has become one of the most impactful preventive public health interventions of the past decades. In Denmark, expanded newborn screening (eNBS) has grown into a nationwide programme that systematically tests nearly all newborns for a panel of mostly genetic, treatable diseases using dried blood spots. This approach allows early diagnosis and treatment in a latent disease phase, preventing irreversible damage and significantly improving long‑term outcomes.
An update on the Danish programme confirms that expanded NBS is a successful preventive public health programme and supports extension of screening to additional conditions where effective early interventions exist. As national and regional screening panels evolve, laboratories need robust, fast, and regulation‑compliant molecular assays that can be integrated into high‑throughput workflows.
Before looking at specific molecular tools, it is useful to highlight three diseases that are increasingly central in international NBS discussions.
- Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease affecting alpha‑motoneurons, most often caused by a homozygous SMN1 exon 7 deletion; prevalence is roughly 1 in 10,000 births, and outcomes improve dramatically when therapy starts pre‑symptomatically.
- Severe combined immunodeficiency (SCID) represents a group of disorders characterised by profound T‑cell (and often B‑ and NK‑cell) deficiency; TREC/KREC‑based screening allows early identification before severe infections occur.
- Sickle cell disease (SCD) encompasses inherited red blood cell disorders driven by β‑globin mutations (classically HbS and HbC), where polymerisation of mutant haemoglobin leads to sickling, haemolysis and vaso‑occlusion; newborn diagnosis enables timely prophylaxis and structured follow‑up. Together, these conditions illustrate why molecular confirmation and second‑tier testing are so critical in a modern, expanded screening strategy.
ViennaLab’s RealFast™ portfolio – available in the Nordics through BioNordika – provides exactly this: focused, real‑time PCR assays for rapid confirmation and second‑tier testing around diseases that are part of, or closely aligned with, expanded NBS panels.
NBS‑Focused RealFast™
These assays are the most directly relevant to expanded newborn screening workflows, particularly for confirmatory genetics after an abnormal biochemical screen or for early‑life risk clarification.
Condition / Area | Product name | Cat. no. | Reactions | Type | Regulatory status | Typical NBS‑related use |
|---|---|---|---|---|---|---|
Congenital Adrenal Hyperplasia (CAH) | CAH RealFast™ CNV Assay | 7-410 | 100 rxn | CNV | CE/IVD | Confirms CYP21A2 deletions/duplications as a second‑tier test after elevated 17‑OHP in CAH screening. |
Hereditary haemochromatosis (iron overload risk later in life) | HFE C282Y RealFast™ Assay | 7-130 | 100 rxn | Single marker | CE/IVD | Clarifies HFE C282Y status in families/children from high‑risk backgrounds or when iron metabolism is under early review. |
| 7-133 | 32 rxn | |||||
| Hereditary haemochromatosis | HFE H63D RealFast™ Assay | 7-140 | 100 rxn | Single marker | CE/IVD | Companion to C282Y testing; helps define combined HFE genotypes that may guide long‑term follow‑up. |
| 7-143 | 32 rxn | |||||
| Hereditary haemochromatosis (combined) | HFE mpx RealFast™ Assay | 7-135 | 100 rxn | Multiplex | CE/IVD | Simultaneous C282Y + H63D genotyping in one run; useful in labs that want streamlined HFE follow‑up. |
| 7-138 | 32 rxn | |||||
| Alpha‑1 antitrypsin deficiency (AATD) | AAT mpx RealFast™ Assay | 7-265 | 100 rxn | Multiplex | CE/IVD | Detects SERPINA1 *S and *Z variants related to AATD, relevant to early‑life risk of lung and liver disease in some programmes. |
| 7-268 | 32 rxn |
