Sponsored, no-charge genetic testing for lysosomal storage diseases

Lysosomal storage disorders can be difficult to diagnose

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 in the US and Canada must be suspected of having an LSD based on at least one of the following:

  • Clinical features
  • Suspicion of, or known diagnosis of, a specific lysosomal storage disease
  • Family history related to LSDs
  • Lab result suggestive of LSDs
  • Presumptive positive newborn screening

Genetic testing with Invitae

The Invitae Detect LSDs 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.

Metabolic clinical area

Comprehensive LSDs panel*

analyzes up to 53 genes associated with lysosomal storage diseases

Comprehensive MPS panel

analyzes genes associated with mucopolysaccharidoses

Cardiology / neurology clinical area

Cardiomyopathy comprehensive panel

provides a comprehensive analysis of the genes associated with inherited cardiomyopathy conditions

Comprehensive neuromuscular disorders panel

analyzes up to 123 genes that are associated with inherited neuromuscular disorders, including muscular dystrophies, myopathies, and congenital myasthenic syndromes

  • You can also order the Invitae Canavan Disease Test, Invitae Wilson Disease Test, and single genes from the metabolic clinical area. To view those genes, view the paper order form.

*This panel does not currently test for Gaucher diesease.

Sponsored genetic counseling

Individuals tested through the Detect LSDs program are eligible for post-test genetic counseling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Invitae at no charge as part of the program. To schedule a genetic counseling appointment, please contact GeneMatters at 1-866-741-5331 or schedule online at www.gene-matters.com (use partner code: LYSO).

More information for clinicians

Already been tested through Detect LSDs?

Family follow-up testing

Invitae offers family variant testing for all blood relatives of patients who undergo testing at Invitae and are found to have a pathogenic or likely pathogenic variant. Our family variant testing reports on the variant(s) that was identified in the original family member, as well as any other pathogenic variant(s) found in the full gene.

If your patient tests positive through the Detect Lysosomal Storage Diseases program, all of his or her blood relatives are eligible for family variant testing. If the relatives choose to participate in the Detect  Lysosomal Storage Diseases program, then the orders will be processed through the program. Download the Detect Lysosomal Storage Diseases paper order form.

Ordering made easy

Clinicians can place an order by following the steps below.

Place your order

To place a paper-based order, download the paper order form. To place an order online:

  1. Sign up for an account and start a new order
  2. Under Test Selection, click on the Partnership Programs tab and enter LYSO in the Invitae Partner Code field
  3. Use the search bar to find and select one of the testing options above
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print, and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen

Collect a specimen

  1. Order a specimen collection kit
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, please see specimen and shipping requirements

Receive results

  1. Once Invitae receives the sample, you will receive the results in 10-21 calendar days, on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

Are you a patient?

If you're a patient and believe you are eligible for this sponsored testing program, you have options:

Contact Genome Medical
(available in US only)

Schedule a genetic counseling session, by phone or video, with an expert who can review your testing options and place the order. There is a cost associated with the Genome Medical services, which may be covered under your health benefits.

Discuss the program with your doctor

If you already have a healthcare provider who can place this order, you can download this flyer to take to your own provider.

Find a local genetics provider

Search our genetics providers network to find a provider in your area. Please sign in, or create an account, to connect with our network of professionals. There may be a cost associated with the provider’s services.

Detect LSDs is offered in partnership with the following sponsors:







Explore relevant advocacy organizations


About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae provides clinical-grade, medically actionable genetic information to answer essential health questions across all stages of life.


While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.