If your patient displays neuromotor manifestations that could be associated with a neurologic condition, our program is designed to help you. Confirm Arginase 1 Deficiency (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 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
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
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
Ordering a plasma
amino acid panel
Eligibility criteria:
Hereditary Spastic Paraplegia (HSP) with
no pathogenic variant*
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 >Upper Limit of Normal (ULN),†
they can assist you with genetic confirmation.
Ordering a
genetic test
Eligibility criteria:
Spasticity or Global Developmental Delay
and Arginine >Upper Limit of
Normal (ULN)†
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.
*A healthcare professional is required to confirm no pathogenic variant by previous genetic testing.
†ULN is defined through plasma amino acid reference levels established in a CLIA/CAP-validated lab or through measurement with in vitro diagnostic (IVD) assay.
While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare 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 healthcare professionals who use this program. Genetic testing and counseling is available in the US only. Healthcare 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 March 6, 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.
