Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined immunodeficiency (SCID) has been implemented in public health laboratories in the last 5 years. SCID detection is based...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Immunodeficiency and Autoimmune Disorders
• Share to Neurogenetic and Muscular Disorders Research
• Share to Viral Infections and Immunology Research