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 LSDs Sponsored Testing Program•Sponsored by Passage Bio, Neurogene Inc.•Performed by Invitae | Labcorp
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Detect Lysosomal Storage Diseases Program provides no-charge genetic testing for patients in the US or Canada when an LSD is suspected. Eligible patients may present with clinical features, abnormal enzyme studies, positive newborn screens, or relevant family history. Testing through Invitae’s LSD panel can help confirm diagnosis and guide management.
When to consider this test
Patient selection
- Patient must be located in the United States or Canada.
- Provider suspects an LSD based on at least one of the following:
- Clinical signs or symptoms consistent with an LSD
- A suspected or confirmed diagnosis of a specific LSD
- Family history indicating risk for an LSD
- Laboratory findings concerning for an LSD, including presumptive positive newborn screening
Workflow
How to use this program
- 1
Order Test
Review eligibility, discuss testing, obtain consent, and place the order through Invitae’s online portal.
- 2
Collect Sample
Collect the specimen using an Invitae kit and return it. Most samples can be shipped at no additional charge from the US and Canada.
- 3
Review Results
Access results online and use available resources to support your discussion with the patient.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
What is the purpose of Detect LSDs testing?
The program offers no-charge genetic testing for patients suspected of having an LSD, to shorten time to genetic diagnosis, support clinical management, and enable timely therapeutic or trial decisions.
Which patients qualify for the program?
Patients in the US or Canada who show clinical features suggestive of LSD, have abnormal enzyme or lab findings, positive newborn screening, a known or suspected LSD, or relevant family history.
How is the test ordered and processed?
Providers obtain consent, submit an order via Invitae’s portal or requisition form, collect a specimen using the Invitae kit, and send it for testing. Results are usually returned in 10–21 days.
Is genetic counseling included?
Yes. After testing, patients are eligible for free post-test genetic counseling through Invitae — available by online scheduling or calling Client Services. This helps interpret results, guide family risk assessment, and support next steps.
What happens if a variant is identified?
A confirmed pathogenic or likely-pathogenic variant supports diagnosis. Providers can use that information to inform care, arrange follow-up, and consider therapies or enrolment in trials. If a variant is VUS or uncertain, genetic counseling can support further evaluation and family planning.
Can relatives be tested if a pathogenic variant is found?
Yes — for eligible patients with a pathogenic/likely pathogenic result (or approved VUS), family‐member follow-up testing can typically be arranged under the program.
See an issue with this program?