Sponsored, no-charge genetic testing for eligible individuals in the U.S. with elevated plasma arginine and suspected of having an undiagnosed neuromotor or neurometabolic disease

Arginase 1 Deficiency (ARG1-D), also known as hyperargininemia, is an autosomal recessive disease caused by mutations in the ARG1 gene that encodes the arginase 1 enzyme (ARG1).1,2

Genetic prevalence estimates greater than 2,500 patients worldwide. In approximately one-third of patients with ARG1-D, other family members are also affected.3

Manifestations of ARG1-D often mimic those of other neurologic and neurometabolic disorders such as cerebral palsy (CP) and hereditary spastic paraplegia (HSP). Manifestations affecting children into adulthood typically include progressive spasticity, developmental delay, intellectual disability, and seizures.1,2,4-7

Genetic testing aids in the identification and diagnosis of ARG1-D, and may bring a patient one step closer to appropriate clinical management:

  • Confirm a clinical diagnosis of Arginase 1 Deficiency (ARG1-D)
  • Determine which relatives may be at risk 
  • Provide treatment guidance for prompt intervention

About the THINK ARGININE™ genetic testing program

Program eligibility

The patient must be aged 40 years or younger living in the U.S. with minimum plasma arginine of 115 μM (record value below)* and one of the following:
  • Diagnosis of Hereditary Spastic Paraplegia (HSP) with negative or uncertain results on an HSP multi-gene panel test
  • Spasticity
  • Global Developmental Delay

If you suspect your patient to have ARG1-D but they do not meet the current eligibility criteria and would still like to obtain testing, please contact to discuss eligibility and receive an exception code.

*Note: No-charge plasma amino acid testing is available through

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. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information. If you chose to do a paper-based order, include the completed paper order form in the box 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

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.

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 Aeglea BioTherapeutics

Aeglea BioTherapeutics is a late clinical-stage biotechnology company redefining the potential of human enzyme therapeutics to benefit people with rare and devastating metabolic diseases with limited treatment options. Aeglea has an active discovery platform focused on engineering small changes in human enzymes to have big impact on the lives of patients and their families.