Invitae Comprehensive Lysosomal Storage Disorders Panel
A comprehensive panel analyzing genes linked to lysosomal storage disorders. Useful for patients with symptoms or abnormal studies suggesting an LSD.
Accessed through the Invitae® Detect Lysosomal Storage Diseases Sponsored Testing Program•Sponsored by Passage Bio, Neurogene Inc.•Performed by Invitae | Labcorp
Designed to help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
Lysosomal storage diseases are a group of rare inherited conditions that can affect the brain, bones, organs, and development. When symptoms are hard to explain, or when a newborn screening or lab result raises a concern, genetic testing can be a powerful step toward getting a clear diagnosis and a plan. The Invitae Detect LSDs program provides a comprehensive 58-gene test that screens for many types of lysosomal storage diseases, including mucopolysaccharidoses, neurodegenerative forms, and other storage disorders, all through a single test at no cost to you or your family. The program also includes access to genetic counseling so you can understand your results with expert support.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- The patient is in the United States or Canada
- A doctor suspects a lysosomal storage disease for at least one of these reasons:
- Symptoms or clinical features of a lysosomal storage disease
- A specific lysosomal storage disease is suspected or already diagnosed
- A family member has a lysosomal storage disease
- A lab test result points to a lysosomal storage disease
- A newborn screening result came back presumptive positive
What to expect
How the process works
- 1
Discuss & Consent
Talk with your provider about testing and give consent. Your provider will place the order through Invitae’s online portal.
- 2
Provide a Sample
Give a specimen using an Invitae collection kit. Most samples can be returned at no cost within the US and Canada.
- 3
Get Your Results
View your results online. Genetic counseling is available to help you understand your report.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Common questions about this program
What is the Invitae Detect LSDs program for lysosomal storage diseases?
The Invitae Detect LSDs program is a sponsored genetic testing program for people who may have a lysosomal storage disease. It uses a comprehensive 58-gene panel called the Invitae Comprehensive Lysosomal Storage Disorders Panel to look for genetic changes linked to many types of lysosomal storage diseases, including mucopolysaccharidoses, neurodegenerative conditions, and other storage disorders. The program is designed to help confirm a diagnosis and guide next steps in care.
Is the genetic test for lysosomal storage diseases through this program really free?
Yes, testing through the Invitae Detect LSDs program is provided at no cost to you. The program is funded by Passage Bio and Neurogene Inc., who sponsor the cost of the test. You will not receive a bill, a copay, or any charge for the genetic testing or the genetic counseling services included with the program.
What kind of sample is needed for the lysosomal storage disease genetic test?
The Invitae Detect LSDs program can use several types of samples, including a blood draw, a saliva sample, or a buccal swab (a gentle cheek swab). Your ordering clinician will help determine which option is most convenient and appropriate for you or your child. A DNA sample that has already been extracted can also be used.
How long does it take to get results from the lysosomal storage disease genetic test?
Results from the Invitae Detect LSDs program typically take 10 to 21 days after the lab receives your sample. Your healthcare provider will share your results with you and help explain what they mean. Genetic counseling is also available through the program at no additional cost to help you understand the findings.
Is genetic counseling included with the lysosomal storage disease testing program?
Yes, the Invitae Detect LSDs program includes access to genetic counseling at no cost. A genetic counselor can help you understand what the test looks for, what the results mean for your family, and what steps to consider next. This support is available whether results identify a genetic change or not.
Who should consider genetic testing for lysosomal storage diseases?
Genetic testing for lysosomal storage diseases may be helpful for anyone whose symptoms, lab results, newborn screening, or family history suggest an LSD could be the cause. This includes children or adults with unexplained developmental, neurological, or organ-related symptoms. Your doctor can help determine whether this program may be right for you or your family member.
Who qualifies for Invitae Detect LSDs lysosomal storage diseases genetic testing?
Patients may qualify for Invitae Detect LSDs if they meet the program's eligibility criteria:
- Resides in the United States or Canada.
- Suspected of having a lysosomal storage disease (LSD) based on one or more of the following:
- Clinical features suggestive of an LSD
- Suspicion of, or a known diagnosis of, a specific LSD
- Family history related to an LSD
- Lab findings suggestive of an LSD or a presumptive positive newborn screen
Questions to ask your doctor about Invitae Comprehensive Lysosomal Storage Disorders Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?