Genetic Research Solutions Benefits and Workflow for Newborn Screening

Benefits of genetic analysis for newborn screening applications

Genetic testing focuses on DNA molecules packaged into thread-like structures called chromosomes. Gene mutations occur due to changes in the DNA sequence, chromosomal structure, or number of chromosomes. Many genetic disorders involve genetic aberrations, which can be inherited from parents or occur spontaneously during embryonic development. With advances in genetic research and analysis technologies, various types of causative genetic aberrations associated with disorders can be detected, both prenatally and postnatally. 

 

Intensive research in early detection of specific illnesses and genetic disorders in newborns is essential to discover prevention methods for infant’s permanent disabilities or death. In newborns, genetic testing can screen for conditions like severe combined immunodeficiency (SCID) syndrome and spinal muscular atrophy (SMA). The Applied Biosystems  TaqMan SCID/SMA Assay is a multiplex real-time PCR assay for simultaneous screening of SCID and SMA directly from dried blood spot (DBS) samples.

 

The TaqMan SCID/SMA multiplex assay supports lab directors globally as they move through with path-breaking research efforts.

TaqMan SCID/SMA multiplex assay

SCID syndrome is a primary immunodeficiency disorder characterized by lack of functional T and B cells, resulting in reduced cellular and humoral immunity. SMA is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and brain, leading to progressive muscular weakness.

 

The TaqMan SCID/SMA multiplex assay is a consistent and robust multiplex design optimized for high specificity to detect the genetic defects that cause these conditions. No DNA purification is needed after DBS extraction, enabling less hands-on time to complete tests with the rapid DBS workflow.

 

Web-based ordering is simple, the assay kit includes the complete workflow and comes with the support network to deliver reliable quality and integrated solution on a national or global scale. Adaptable to standard laboratory equipment, the workflow is compatible across multiple QuantStudio platforms and can be easily automated.

Workflow

The TaqMan SCID/SMA multiplex assay offers quality and reliability of results, simplicity with rapid optimized DBS workflow, and cost-efficiency.

For Research Use Only. Not for use in diagnostic procedures.