Chitotriosidase Deficiency

Sponsored diagnostic testing programs for Chitotriosidase Deficiency

A deficiency of the chitotriosidase enzyme, often identified incidentally when enzyme activity is used as a biomarker for other lysosomal storage diseases. Most individuals are asymptomatic, although rare cases with mild clinical features have been reported.

2 programs found for Chitotriosidase Deficiency

Programs

2 programs

Invitae® Detect LSDs

Sponsored by
Passage Bio
Neurogene Inc.

Invitae Comprehensive Lysosomal Storage Disorders Panel

The Detect Lysosomal Storage Diseases Program provides no-charge genetic testing for patients in the US or Canada when an LSD is suspected. Eligible patients may present with clinical features, abnormal enzyme studies, positive newborn screens, or relevant family history. Testing through Invitae’s LSD panel can help confirm diagnosis and guide management.

Metabolic
ViewOrder
Performing labInvitae | Labcorp

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
ViewOrder
Performing labRevvity Omics, Inc.