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:
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.
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.
Individuals in the US and Canada 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).
United States, Canada, and Australia:
Test Requisition Form (English)
Informed Patient Consent (English - US only)
Informed Patient Consent (English - Outside US)
Program Flyer (English)
*To order a test kit in Australia, please send an email to firstname.lastname@example.org with the requested kit type (saliva, blood, buccal), number of kits requested, sponsored testing program name, clinician name, email, phone number and address. If you're interested in shipping a saliva kit directly to a patient, please specify that in your email and include the patient's name and address.
Formulário de Solicitação em papel (Português)
Formulário de Consentimento Informado do Paciente (Português)
Folheto/Panfleto do Programa e Instruções para Pedidos no Brasil (Português)
Argentina, Chile, Colombia, Mexico:
Formulario de Solicitud de Prueba (Español)
Consentimiento Informado del Paciente (Español)
Folleto del Programa y Instrucciones de Pedido (Español)
If a positive result is identified, testing for your patient’s family members is available.
Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.
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.
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.
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 is available in the US, Canada, Argentina, Australia, Brazil, Chile, Colombia, and Mexico. 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.