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.
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 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.
Country-specific program materials:
United States, Canada, and Australia:
Test Requisition Form (English)
Informed Patient Consent (English - US only)
Informed Patient Consent (English - Outside US)
Program Flyer (English)
Brazil:
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)
UK, Portugal, Spain, Italy, & Netherlands:
Informed Patient Consent English - Outside US)
Formulário de Consentimento Informado do Paciente (Português)
Consentimiento Informado del Paciente (Español)
Consenso informato alle panel test genetici (Italian)
Online ordering only is available for this program in Europe (no paper ordering).
Next steps and additional services
Family variant testing for familial insights
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.
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 (English | Portuguese | Spanish) 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.
Disease resources provided by our 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.
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 is available in the US, Canada, Argentina, Australia, Brazil, Chile, Colombia, Italy, Netherlands, Portugal, Spanin, Mexico, and UK. 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.
