Detect Lysosomal Storage Diseases Program
Sponsored, no-charge genetic testing
US and Canada
What is the role of genetic testing for lysosomal storage diseases (LSDs)?
There are over 50 different diseases that are categorized as lysosomal storage diseases — genetic testing can be crucial to finding a diagnosis. Some of the main symptoms can include:
- Loss of developmental milestones
- Unusual gait / uncoordination
- Behavior changes
- Vision loss
- Hearing loss
- Seizures
- Severe pain in extremities
- Cardiomyopathy
Patient profiles
Patient profile 1: Metachromatic leukodystrophy
- 18-month-old female with clinical symptoms of spinal muscular atrophy (SMA), and negative SMA testing.
- Based on the patient’s clinical history, the Invitae Comprehensive Lysosomal Storage Disorder Panel is ordered. Pathogenic variants were identified in the ARSA gene, which is associated with metachromatic leukodystrophy.
- With the molecular diagnosis, the clinician and family can now consider commercially available therapies and clinical trials.
Patient profile 2: Galactosialidosis
- 8-year-old male with a clinical presentation and abnormal enzyme testing, which suggested a diagnosis of Morquio type IVB.
- Based on the patient’s clinical history, the Invitae Comprehensive Lysosomal Storage Disorder Panel is ordered. A pathogenic variant and a variant of uncertain significance are identified in the CTSA gene, which is associated with galactosialidosis.
- With a likely molecular diagnosis, the clinician can make more informed medical management decisions and provide the patient the opportunity to participate in natural history studies and clinical trials.
Program eligibility
To qualify for no-charge testing through the Invitae® Detect LSDs program, individuals must be located in the US or Canada and must be suspected of having an LSD based on at least one of the following:
Clinical features
Or suspicion of, or known diagnosis of, a specific lysosomal storage disease
Or family history related to LSDs
Or lab result suggestive of LSDs or, presumptive positive newborn screening
Test options
This program offers testing with multiple panels as well as with single genes. If the test comes back negative, clinicians have the option of re-requisition to another panel within the original clinical area.
How to order
Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.
Step 1
Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.
Step 2
Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada
Step 3
Receive results online and access resources to guide your discussion with patient about their results.
Next steps and additional services
Genetic counseling services
Individuals in the US and Canada tested through the Detect Lysosomal Storage Diseases program are eligible for post-test genetic counseling to help them understand their test results. This service is made available at no charge as part of the program. Patients can access genetic counseling by using an online scheduling option or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.