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Sponsored, no-charge genetic testing for lysosomal storage diseases
Lysosomal storage disorders can be difficult to diagnose
There are approximately 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
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
Cardiology / neurology clinical area
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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).
Place your order
To place a paper-based order, download the paper order form. To place an order online:
- Sign up for an account and start a new order
- Under Test Selection, click on the Partnership Programs tab and enter LYSO in the Invitae Partner Code field
- Use the search bar to find and select one of the testing options above
- Fill in the required patient information
- Under Billing Information, select Institutional Billing and leave all fields blank
- Complete the Order Authorization section and submit the order
- Fill out, print, and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen
Collect a specimen
- Order a specimen collection kit
- Collect the specimen and ship it back to Invitae
- Include the signed eligibility criteria form with the specimen
- For additional information, please see specimen and shipping requirements
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.
The Detect LSDs program includes testing for the following disorders:
MucopolysaccharidosesMPS I, MPS II, MPS IIIA, MPS IIIB, MPS IIIC, MPS IIID, MPS IVa, MPS IVb, MPS VI, MPS VII, MPS IX |
SphingolipidosesFabry disease, Farber disease, GM1 gangliosidosis, GM2-gangliosidosis AB variant, Galactosialidosis, Krabbe disease, Metachromatic leukodystrophy, Multiple sulfatase deficiency, Niemann-Pick A, B, Prosaposin deficiency, Tay-Sachs disease, Sandhoff disease, SapA deficiency (Krabbe variant), SapB deficiency (MLD variant), SapC deficiency (Gaucher variant) |
MucolipidosesMucolipidosis type I, Mucolipidosis type II alpha/beta, Mucolipidosis III alpha/beta, Mucolipidosis III gamma, Mucolipidosis type I |
Neuronal ceroid lipofuscinosesCLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN9, CLN10, CLN14 (Opt in: CLN4, CLN11, CLN12, CLN13) |
OligosaccharidosesAlpha-mannosidosis, Aspartylglucosaminuria, beta-mannosidosis, Fucosidosis, Pycnodysostosis, Schindler disease, Sialidosis I |
Lysosomal transport defectsCystinosis, Infantile sialic acid storage disease, Salla disease |
Lipid storage defectsNiemann-Pick C, Lysosomal acid lipase deficiency |
Glycogen storage disease IIPompe disease |
Lysosomal-associated membrane proteinsDanon disease |
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.
Disclaimer
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.
