Research in the field of newborn screening investigates selected conditions early in life, often before symptoms become apparent. Severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), sickle cell disease (SCD) and spinal muscular atrophy (SMA) are inherited conditions affecting immune function, haemoglobin or motor neurons. ViennaLab’s RealFast™ assays enable real-time PCR analysis of selected molecular markers associated with these conditions, providing tools for their study in the context of newborn screening.
Spinal Muscular Atrophy (SMA) and SMN1 RealFast™ Assay
- Analysis of a molecular target associated with SMA, an autosomal recessive neurodegenerative condition affecting motor neurons.
- Qualitative analysis of the presence or absence of SMN1 c.840C in genomic DNA extracted from blood.
- Simultaneous amplification of a control gene to verify successful PCR (positive and negative controls included).
Sickle Cell Disease (SCD) and HbS-HbC mpx RealFast™ Assay
- SCD refers to a group of inherited red blood cell disorders characterized by mutations in the β-globin gene (HBB).
- Multiplex assay designed for the analysis of the HBB variants c.19G>A (HbC) and c.20A>T (HbS) in genomic DNA extracted from blood.
- Qualitative analysis of the homozygous or heterozygous presence of these variants in a single reaction.
Primary immunodeficiencies (PIDs) and SCID-XLA mpx RealFast™ Assay
- PIDs are rare inherited disorders characterized by impaired T- and/or B-cell function, resulting in defective immunity.
- Severe combined immunodeficiency (SCID) comprises a heterogeneous group of disorders defined by the absence of functional T-cells, with variable involvement of B-cells and natural killer (NK) cells, while X-linked agammaglobulinemia (XLA) is a primary B-cell immunodeficiency associated with disrupted B-cell development and decreased or absent antibody production.
- Semi-quantification detection of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC), generated during T- and B-cell receptor development.
Assay combinations for flexible, platform-agnostic workflows
These assays are designed for use with a range of validated real-time PCR instruments, offering extra flexibility. The SMN1 RealFast™ Assay can be combined in a single reaction with either the SCID-XLA mpx RealFast™ Assay or the HbS-HbC mpx RealFast™ Assay, following the respective IFUs. HbS-HbC and SCID-XLA use overlapping dye channels and cannot be combined in the same reaction.
| Fluorescent dye | SMN1 RealFast™ Assay | HbS-HbC mpx RealFast™ Assay | SCID-XLA mpx RealFast™ Assay |
|---|---|---|---|
| FAM | SMN1 c.840C | - | - |
| ROX | Internal PCR control | - | - |
| HEX | - | HbC (HBB c.19G>A) | KREC |
| Cy5 | - | HbS (HBB c.20A>T) | TREC |
| Cy5.5 | - | HBB control | ACTB reference |
quickDBS: Fast DNA preparation - Seamless PCR integration
Designed for modern diagnostic laboratories, the quickDBS protocol delivers PCR-ready DNA directly from dried blood spots (DBS) on filter paper (Guthrie-cards), in a rapid and cost-efficient workflow. Whether implemented manually or fully automated, quickDBS enables laboratories to increase throughput and reduce time-to-result.
SMN1 RealFast™, HbS-HbC mpx RealFast™ and SCID-XLA mpx RealFast™ have been optimized for use with the quickDBS kit.
All assays listed above are for research use only (RUO). Not for use in diagnostic procedures.
Looking for assays for other conditions relevant to newborn screening? Explore our portfolio for congenital adrenal hyperplasia (CAH), cystic fibrosis (CF) and Thalassemia.