Sponsored, no-charge genetic testing for individuals suspected of or at risk of having a leukodystrophy or a genetic leukoencephalopathy.









Clinical diversity

Leukodystrophies and genetic leukoencephalopathies are a highly heterogeneous group of conditions. Age of onset and severity can vary even within families.1,2,3

Signs & symptoms

Symptoms vary depending on the specific condition and the age of onset, but may include: developmental delay, regression, ataxia, seizures, personality and/or behavioral changes.4,5,6

Common conditions

The most commonly diagnosed leukodystrophies include metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Krabbe disease, Aicardi-Goutieres syndrome, Alexander disease, and Canavan disease.7


Genetic testing can help shorten the diagnostic odyssey and can reduce the need for other diagnostic procedures that may carry added risk.8

Leukodystrophies sponsored testing can help:

  • Confirm a suspected diagnosis
  • Provide treatment guidance
  • Support enrollment in precision therapy clinical trials 
  • Determine which relatives may be at risk
  • Provide recurrent risk assessment

About the Leukodystrophies sponsored testing program

Program eligibility

Symptomatic or asymptomatic individual with a clinical diagnosis or suspicion of: 
  • Leukodystrophy
  • Genetic leukoencephalopathy 
Asymptomatic individual with a family history of a leukodystrophy or genetic leukoencephalopathy. 

Countries of availability

  • United States

  • Canada

  • Argentina

  • Australia

  • Brazil

  • Chile

  • Colombia

  • Mexico

Genetic testing with Invitae

The Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel offers a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement.


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 (English I Portugese I Spanish) and include it in the specimen box, or email the completed form to globalsupport@invitae.com

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, US, Australian, and Canadian clinicians can order a blood, buccal, or saliva collection kit here. Clinicians in other eligible countries should refer to the country-specific section below for instructions on how to order a specimen collection kit in their region.
Please view specimen and shipping requirements for important information. If you chose to place a paper-based order, include the completed paper order form in the box with the specimen or email the completed form to globalsupport@invitae.com.

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. 

Country-specific program materials:

United States, Canada, and Australia:
Test Requisition Form (English)
Informed Patient Consent (English - US only)
Informed Patient Consent (English -  Outside US)
Program Flyer (English)

Formulário de Solicitação em papel (Português)
Formulário de Consentimento Informado do Paciente (Português)
Folheto/Panfleto do Programa e Instruções para Pedidos no Brasil (Português)

Argentina, Chile, Colombia, Mexico:
Formulario de Solicitud de Prueba (Español)
Consentimiento Informado del Paciente (Español)
Folleto del Programa y Instrucciones de Pedido (Español)

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, the 
Leukodystrophies sponsored 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

No-charge, post-test genetic counseling services will be available to patients in the US and Canada starting in Q4 2021.

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.

Are you a patient?

If you're a patient and believe you are eligible for this sponsored testing program, you have options:

Contact Genome Medical
(available in US only)

Schedule a genetic counseling session, by phone or video, with an expert who can review your testing options and place the order. There is a cost associated with the Genome Medical services, which may be covered under your health benefits.

Discuss the program with your doctor

If you already have a healthcare provider who can place this order, you can download this flyer to take to your own provider.

Find a local genetics provider

Search our genetics providers network to find a provider in your area. Please sign in, or create an account, to connect with our network of professionals. There may be a cost associated with the provider’s services.

Leukodystrophies Sponsored Testing is offered in partnership with the following sponsors in various countries:



Disease resources provided by our sponsors:

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.