Sign in →

Catalog ID Lysosomal Lysosomal Storage Diseases Genetic Testing (free sponsored testing)

Important Note

Order: Ref Misc Referral Lab Test

Comment: Invitae Lysosomal

Note: This is FREE genetic testing for patients suspected of having a lysosomal storage disease.

Eligibility

To qualify for no-charge testing, individuals must be suspected of having a lysosomal storage disease based on at least one of the following:

  • Clinical features (unusual gait/uncoordination, loss of development milestones, behavoir changes, vision loss, hearing loss, seizures, severe pain in extremities, cardiomyopathy)
  • Suspicion of, or known diagnosis of, a specific lysosomal storage disease
  • Family history related to lysosomal storage diseases
  • Lab result suggestive of lysosomal storage diseases
  • Presumptive positive newborn screening for lysosomal storage disease

Specimen Requirements

Request specimen collection kit from the Specimen Referral Laboratory at 706-721-4868 or send the patient to the 2nd floor MOB Laboratory.

Fill out the requisition that is under the "Resources" section on the left side of this screen. It must have a physician's signature. Submit the requisition form with the completed kit or have the patient present it to the laboratory for draw.

Turn Around Time

10-21 days

Performing Laboratory

Invitae

https://www.invitae.com/en/detectLSDs/