Spinal Muscular Atrophy (SMA)

Sponsored diagnostic testing programs for Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is a hereditary neuromuscular disorder caused by degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. Symptoms range from severe infantile-onset weakness to later-onset, milder forms affecting mobility and motor function. Genetic testing confirms diagnosis and guides treatment and family counseling.

2 programs found for Spinal Muscular Atrophy (SMA)

Programs

2 programs
SMA Identified
Sponsored by
Biogen

Invitae Spinal Muscular Atrophy STAT Panel

The SMA Identified program offers sponsored testing to assist in diagnosing SMA or determining carrier status, with three panel options available to match patient needs. Genetic confirmation is often required before initiating therapy, and the program helps streamline that process. Biogen funds the program but never receives identifiable patient data from testing.

Neurology

The Lantern Project

Sponsored by
Sanofi

Lysosomal Disorders Testing Pathway

The Lantern Project provides sponsored genetic testing for patients with suspected lysosomal storage diseases (LSDs). LSDs are multisystem disorders caused by impaired lysosomal function and often present with overlapping features. This program supports timely diagnosis by offering testing options for major conditions including Gaucher, Fabry, Pompe, and multiple MPS subtypes.

Metabolic