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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Invitae Detect LSDs program offers a single sponsored panel, the Invitae Comprehensive Lysosomal Storage Disorders Panel, that interrogates 58 genes across mucopolysaccharidoses, neurodegenerative, and storage lysosomal storage diseases via NGS. Funded by Passage Bio and Neurogene Inc. and performed by Invitae at Labcorp, the program removes the cost barrier to broad molecular workup when clinical features, abnormal enzyme studies, positive newborn screens, or family history raise suspicion for an LSD. Genetic counseling services are included, and participation carries no obligation to recommend, prescribe, or purchase any product from the sponsors or Invitae.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient is in the U.S. or Canada
- Suspected of having a lysosomal storage disease based on at least one of the following:
- Clinical features
- Suspicion or known diagnosis of a specific LSD
- Family history of LSD
- Lab result suggestive of LSD
- Presumptive positive NBS
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
Which patients are appropriate for the Invitae Detect LSDs sponsored lysosomal storage disease panel?
The Invitae Detect LSDs program is intended for patients in whom a lysosomal storage disease is suspected based on clinical presentation, abnormal enzyme studies, a positive newborn screen, or a relevant family history. The program is available in the US and Canada. Healthcare professionals must confirm that patients meet the program's eligibility criteria at the time of ordering.
What genes and condition categories does the Invitae Comprehensive Lysosomal Storage Disorders Panel cover?
The Invitae Comprehensive Lysosomal Storage Disorders Panel covers 58 genes across three major categories of lysosomal storage diseases: mucopolysaccharidoses, neurodegenerative LSDs, and other storage disorders. The panel uses next-generation sequencing and is designed to support molecular confirmation across a broad range of LSDs through a single order, reducing the need for sequential or condition-specific testing.
What specimen types are accepted for the lysosomal storage disease panel, and what is the turnaround time?
The Invitae Detect LSDs program accepts whole blood, saliva, buccal swab, or extracted gDNA. Turnaround time is 10 to 21 days from specimen receipt. Kits can be requested through Invitae's standard kit request process.
Is genetic counseling available through the Invitae Detect LSDs program?
Yes, genetic counseling services are included as part of the Invitae Detect LSDs program at no charge. Counselors can support pre-test and post-test discussions, assist with variant interpretation in clinical context, and help guide next steps for patients and families affected by lysosomal storage diseases.
Who sponsors the Invitae Detect LSDs program, and does ordering create any prescribing obligation?
The Invitae Detect LSDs program is funded by Passage Bio and Neurogene Inc., with testing performed by Invitae at Labcorp. Ordering through this program creates no obligation to recommend, purchase, prescribe, promote, or use any products or services from the sponsors or from Invitae. De-identified patient data may be shared with program sponsors, but patient-identifiable information is never disclosed to them.
Which patients are eligible for Invitae Detect LSDs lysosomal storage diseases genetic testing?
Patients may qualify for Invitae Detect LSDs if they meet the program's eligibility criteria:
- 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
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