Sponsored, no-charge genetic testing brought to you by Invitae and Roche for individuals in Central America and the Caribbean clinically diagnosed with spinal muscular atrophy.

Genetic testing for spinal muscular atrophy may bring a patient one step closer to diagnosis and appropriate clinical management:

  • Spinal muscular atrophy (SMA) is an autosomal recessive, inherited genetic disease characterized by degeneration of alpha motor neurons in the spinal cord. The incidence is approximately 1 in 10,000 live births.1 
  • SMA is linked to a homozygous deletion of the SMN1 gene. Humans have a variable number of copies of a very closely related gene, SMN2; splicing of the SMN2 transcript usually results in an mRNA lacking exon 7.1
  • The severity of the SMA depends largely on the number of copies of SMN2, a lower number of copies being associated with a more severe phenotype, yet several exceptions and other genetic modifiers have been reported.1
  • Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by progressive muscle weakness/atrophy.2

About the Spinal Muscular Atrophy (SMA/AME) genetic testing program

Program eligibility

This program is available to individuals in Central America and the Caribbean whose physician has a clinical suspicion of spinal muscular atrophy and have requested support for testing.

Countries of availability

Caribbean: Antigua and Barbuda, Aruba, Bahamas, Barbados, Bermuda, Cayman Island, Curacao, Dominican Republic, Grenada, Haiti, Jamaica, Sint Maarten, St. Lucia, Trinidad and Tobago

Central America: Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama

South America: Guyana, Suriname, Venezuela

Invitae SMA Panel 

.The Invitae Spinal Muscular Atrophy test analyzes SMN1, which is known to cause spinal muscular atrophy (SMA), and SMN2, which can modify the phenotype in individuals with SMN1-related SMA. 

*Invitae Comprehensive Neuromuscular Disorders Panel available as automatic reflex upon negative results found on the Invitae Spinal Muscular Atrophy Panel.

Invitae SMA STAT Panel 

.The Invitae Spinal Muscular Atrophy STAT test analyzes the copy number of SMN1, which is known to cause spinal muscular atrophy (SMA). SMN2 copy number, which can modify disease severity in individuals with SMN1-related SMA, is reported for individuals with a homozygous deletion of SMN1.

This test provides an accelerated 4 day turnaround time (TAT), which can facilitate urgent management and treatment decisions.

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.
To place a paper-based order, download the paper order form and include it in the specimen box.
Please also download the Informed Consent Form (English) or Informed Consent Form (Spanish) and retain for your records.
 

 

2. Collect a specimen

To order a test kit, please send an email to latam@invitae.com with the requested kit type (saliva, blood, buccal), number of kits requested, sponsored testing program name, clinician name, email, phone number and address. If you're interested in shipping a saliva kit directly to a patient, please specify that in your email and include the patient's name and address.
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
Spinal Muscular Atrophy (SMA/AME) genetic testing program includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add rerequisition”

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.

Support every step of the way

Client Services

Available to answer your questions or help you through the testing process.

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website.


About Roche

Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people’s lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalized healthcare – a strategy that aims to fit the right treatment to each patient in the best way possible. For more information, please visit www.roche.com.