Invitae Spinal Muscular Atrophy STAT Panel
Test analyzes SMN1 copy number to diagnose SMA and reports SMN2 copies when SMN1 is deleted. A rapid 4-day STAT TAT supports urgent treatment decisions.
Accessed through the SMA Identified Sponsored Testing Program•Sponsored by Biogen•Performed by Invitae | Labcorp
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
SMA Identified removes the cost barrier to rapid genetic confirmation of spinal muscular atrophy, a step often required before initiating disease-modifying therapy. Sponsored by Biogen and performed by Invitae at Labcorp, the program covers the full cost of the Invitae Spinal Muscular Atrophy STAT Panel for eligible patients in the US. Biogen does not receive identifiable patient data, and ordering through the program carries no prescribing or purchasing obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Patient is in the U.S. or Puerto Rico, suspected of having — or with a family history of — spinal muscular atrophy (SMA)
- At least one of the following (check all that apply):
- Family history of SMA
- Spouse/partner is a known carrier of SMA
- SMN1 gene deletion/mutation with unknown SMN2 copy number
- Muscle wasting
- Hypotonia
- Respiratory issues
- Bulbar dysfunction
- Scoliosis
- Joint contractures
- Tongue fasciculations
- Abnormal reflex
- Spinal rods or fusion
- Other (e.g., EMG results)
Workflow
How to use this program
- 1
Order Test
Confirm eligibility, review testing with the patient, obtain consent, and place the order through Invitae’s online portal.
- 2
Collect Sample
Collect the patient’s specimen using the Invitae kit and return it using the prepaid US shipping label.
- 3
Review Results
Access results online and use available resources to guide discussions with your patient about their results.
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 SMA Identified sponsored genetic testing program?
SMA Identified is available to individuals in the United States, including Puerto Rico, who have a suspected or confirmed diagnosis of SMA without a known SMN2 copy number, or who have a family history of spinal muscular atrophy. Healthcare professionals must confirm that patients meet the program's eligibility criteria at the time of ordering. The program also supports carrier status determination.
What does the Invitae Spinal Muscular Atrophy STAT Panel test and what methodology is used?
The Invitae Spinal Muscular Atrophy STAT Panel is a 2-gene NGS-based panel designed to support diagnostic confirmation and SMN2 copy number assessment. The panel is performed by Invitae at Labcorp. Multiple test options are available through SMA Identified to address different clinical scenarios, including diagnostic and carrier testing needs.
What specimen types are accepted and how do I obtain a collection kit for SMA Identified?
SMA Identified accepts whole blood, saliva, buccal swab, or extracted gDNA. Collection kits can be requested through Invitae's kit request portal and shipped to your practice. This flexibility in specimen type is particularly useful in pediatric and neonatal settings where blood draws may be challenging.
What is the turnaround time for results from the SMA Identified STAT panel?
The Invitae Spinal Muscular Atrophy STAT Panel through SMA Identified has a 4-day turnaround time. This expedited timeline supports timely clinical decision-making, particularly when genetic confirmation is a prerequisite for therapy initiation.
Is there any prescribing or purchasing obligation when ordering through the SMA Identified program?
There is no obligation whatsoever. Ordering through SMA Identified does not require the clinician or patient to recommend, purchase, prescribe, or use any products or services from Biogen, Invitae, or any other party. The program is sponsored by Biogen, which covers the full cost of testing but does not receive identifiable patient information.
Is genetic counseling available to patients tested through SMA Identified?
Yes, genetic counseling is available at no charge to patients and families participating in SMA Identified. This resource can support pre- and post-test discussions, particularly for complex family planning scenarios or when communicating SMN2 copy number implications. Genetic testing and counseling through the program are available in the United States.
Which patients are eligible for SMA Identified Spinal Muscular Atrophy genetic testing?
Patients may qualify for SMA Identified if they meet the program's eligibility criteria:
- Providers may order testing for patients in the US and Puerto Rico who meet one or more of the following:
- Clinical suspicion of SMA or a prior SMA diagnosis without known SMN2 copy number
- No current diagnosis but a documented family history of SMA
- First-degree relatives of individuals diagnosed with SMA through genetic testing
See an issue with this program?