CONFIRM AN ARGINASE 1 DEFICIENCY DIAGNOSIS WITH OUR NO-CHARGE SPONSORED TESTING*† AND SERVICES

The Aeglea THINK ARGININE™ Diagnostic Program provides access to NO-CHARGE sponsored testing*† and services for Arginase 1 Deficiency (ARG1‑D)

Diagnostic Services offered by Aeglea Biotherapeutics

If your patient displays neuromotor manifestations that could be associated with a neurologic condition, our program is designed to help you. Confirm ARG1‑D to avoid delays in diagnosis, treatment, and management.1-4

Benefits for you and your patients:

  • Plasma amino acid panel: measuring arginine levels, as part of your metabolic screen
  • Genetic test: confirming a diagnosis
  • Continuum of care solutions
  • Disease management resources
  • Genetic counseling
  • Ongoing patient monitoring services

Aeglea: Your source for confidence in diagnostic confirmation

Aeglea BioTherapeutics is proud to offer you and your patients diagnostic testing performed by world-class
laboratories. By working together, we share a mission- and purpose-driven culture, to identify those living with
rare diseases that future therapy may help treat.

Aeglea Biotherpeutics is a biotechnology company redfining the potential of human enzyme therapeutics

Aeglea BioTherapeutics is a biotechnology company redefining the potential of human enzyme therapeutics to benefit people with rare and devastating metabolic diseases with limited treatment options. Together, we can help confirm crucial diagnoses of ARG1‑D through the THINK ARGININE™ Diagnostic Program.

Plasma amino acid panel in collaboration with Mayo Clinic Laboratories

Plasma amino acid panel in collaboration with Mayo Clinic Laboratories and Aeglea Biotherapeutics

As the global reference laboratory for Mayo Clinic, Mayo Clinic Laboratories helps clients advance patient care and broaden access to specialized testing. A collaboration with Mayo Clinic Laboratories signals a relentless commitment to accurately detect high plasma arginine levels for you and your patients.

Genetic testing in collaboration with Invitae

Genetic testing in collaboration with Invatae and Aeglea Biotherapeutics

Trusting the genetic confirmation of ARG1‑D to Invitae means some of the world’s leading genetics experts, equipped with technology that exceeds industry standards, will be working for you. We are proud to use their industry-leading lab to help accelerate the diagnosis and confirmation of ARG1‑D.


Help eligible patients receive critical diagnostic testing

If your patient displays neuromotor manifestations that could be associated with a neurologic condition, our program is designed to help you. Confirm ARG1‑D to avoid delays in diagnosis, treatment, and management.

REQUIRED: Your patient must fit the appropriate eligibility criteria below in order to qualify for the testing program.
The patient must be 40 years of age or younger and living in the US.

Either one of both of these tests can be ordered for any eligible patient.

Ordering a plasma
amino acid panel*

Eligibility criteria:
Undetermined plasma arginine levels
AND

Diagnosis of hereditary spastic paraplegia (HSP)
with negative or uncertain results on an HSP
multigene panel test

Download the Mayo Clinic Laboratories
Test Requisition Form (TRF).

Send patient sample with the completed TRF
to Mayo Clinic Laboratories. Address on TRF.

Lab results are sent directly to your office,
and an Aeglea Patient Affairs Manager or
Medical Science Liaison will contact you.
If arginine >115 μmol/L., they can assist you
with genetic confirmation.

Ordering a
genetic test

Eligibility criteria:
Minimum plasma arginine of 115 μmol/L
AND ONE OF THE FOLLOWING:

Diagnosis of HSP
with negative or uncertain results on
an HSP multigene panel test

Spasticity

Global developmental delay

Complete the online Test Requisition Form
to have the kit sent to your office or the patient’s
home for completion.

Return the sample and kit to Invitae.
Address provided in kit.

Lab results are sent directly to your office,
and an Aeglea Patient Affairs Manager or
Medical Science Liaison will contact you.
They will work with your office to answer
any questions and provide continuity
of care for your patients.

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 [email protected] to discuss eligibility.

*Plasma amino acid panel: a health care professional (HCP) is required to confirm no pathogenic variant by previous genetic testing for HSP.
Genetic testing: spasticity or global developmental delay and arginine ≥115 μmol/L. HCP is required to provide level of plasma arginine.


While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Health care professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for health care professionals who use this program. Genetic testing and counseling is available in the US only. Health care professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any other products or services from Invitae or from third parties or commercial organizations.

References:
1. Sun A, et al. Arginase deficiency. In: Adam MP, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2020. 2. Ah Mew N, et al. Urea Cycle Disorders Overview. 2003. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1217/. Accessed September 14, 2021. 3. Huemer M, et al. J Inherit Metab Dis. 2016;39:331-340. 4. Edwards RL, et al. J Inherit Metab Dis. 2009;32:S197-S200. 5. Prasad A, et al. J Child Neurol. 1997;12:301-309. 6. Burrage LC, et al. Hum Mol Genet. 2015;24:6417-6427. 7. Sakiyama T, et al. Tohoku J Exp Med. 1984;142:239-248.