Information about the genetic testing program called Detect Lysosomal Storage Diseases (Detect LSDs) was outlined at the Society for Inherited Metabolic Disorders 43rd Annual Meeting and published in Molecular Genetics and Metabolism.

The program sponsored by Invitae Corporation provides no-charge access to molecular testing using next-generation sequencing panels and genetic counseling to people who may have a lysosomal storage disorder such as Pompe disease or lysosomal acid lipase deficiency.

So far, the program provided genetic testing for 1445 people. The median age of people being tested was 6. Of these 1445 people, 269 (18%) received a positive or likely positive result. The median age at molecular diagnosis was 8 and more than one-third of those tested were diagnosed between ages 0 and 2 years.

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This suggests that the program is enabling diagnosis “at a critical time” since treatments for lysosomal storage disorders are most effective when the patients are young, the authors said.

Read more about Pompe disease overview

Of the 269 people who received a positive or likely positive result, 233 (86%) had a mutation in a gene associated with lysosomal storage disorders. This suggests that “the program is being utilized effectively,” the authors said. Of the 233 mutations, 166 (61%) were in a gene that has a therapy approved by the US Food and Drug Administration, 211 (78%) were in a gene with a potential treatment currently in clinical trials, and 161 (60%) were in a gene with an approved therapy and therapy being tested in clinical trials.

“In summary, the Detect LSD program has demonstrated increased access to genetic testing and high clinical utility for individuals with a suspected [lysosmal storage disorders],” the researchers wrote. 

Lysosomal storage disorders are characterized by the abnormal accumulation of waste products inside the lysosomes causing cellular damage. They are usually associated with progressive neurodegeneration. Early diagnosis is key in treating these diseases and potentially improving clinical outcomes for patients.


Johnson B, Crosby K, Furgerson M, et al. Detect lysosomal storage diseases, a no-charge sponsored testing program, enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal storage disorders. Mol Genet Metab. 2022;135(4):281. doi:10.1016/j.ymgme.2022.01.055