NovoDETECT Primary Hyperoxaluria Panel
This panel analyzes AGXT, GRHPR, and HOGA1 to help diagnose primary hyperoxaluria in patients with recurrent stones, nephrocalcinosis, or unexplained elevated oxalate.
Accessed through the NovoDETECT Sponsored Testing Program•Sponsored by Novo Nordisk•Performed by Blueprint Genetics
Designed to help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
The NovoDETECT program offers no-charge genetic testing and counseling for individuals in the US suspected of primary hyperoxaluria (PH). By testing the key PH genes (AGXT, GRHPR, HOGA1), the program can help clarify whether recurrent kidney stones or elevated oxalate stem from a genetic cause — supporting early diagnosis, tailored management, and informed family planning.
Who this may help
Could this be right for you or your family?
- This program is available to individuals in the US or US territories who meet at least one of the following:
- Family history of recurrent kidney stones (RKS) or a monogenic kidney stone disorder
- Previous genetic testing showing a VUS in AGXT, GRHPR, or HOGA1
- Nephrocalcinosis
- Kidney stones:
- Adults (≥18 yrs): bilateral, multiple, or recurrent stones
- Children (<18 yrs): one or more kidney stones
- Advanced CKD of unknown cause
- Lab evidence suggesting a monogenic cause of RKS (e.g., elevated urine/plasma oxalate or oxalate in stone analysis)
- Children <2 yrs with failure to thrive and impaired renal function
What to expect
How the process works
- 1
Order Test
Your provider orders the NovoDETECT™ genetic test using the online Nucleus portal or a test requisition form. Testing may include the 3-gene PH panel or a broader nephrolithiasis panel.
- 2
Provide Sample
You receive a sample kit at home or through your provider. Review and sign the consent form, then provide a buccal or blood sample. Prepaid shipping is included.
- 3
Get Results
Your provider reviews your results—typically available in about 6 weeks—and discusses what they mean for your kidney health and whether family testing might help.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
Testing is performed by Blueprint Genetics, a CLIA-certified laboratory (CLIA 99D2092375). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Common questions about this program
What is the NovoDETECT™ program?
NovoDETECT™ provides no-charge genetic testing for individuals who may have Primary Hyperoxaluria (PH) or other monogenic kidney stone conditions. Testing is performed by Blueprint Genetics and can help clarify the cause of recurrent stones, nephrocalcinosis, or unexplained kidney disease.
Who is eligible for this program?
You must live in the US or a US territory and meet at least one clinical criterion such as recurrent kidney stones, nephrocalcinosis, elevated oxalate levels, a family history of monogenic stone disease, unexplained CKD, or prior testing showing a VUS in AGXT, GRHPR, or HOGA1. Infants with failure to thrive and kidney impairment may also qualify.
What does the test look for?
Your provider may order either a 3-gene Primary Hyperoxaluria panel or a broader 45-gene nephrolithiasis panel. These tests analyze genes linked to PH1, PH2, PH3, and other inherited causes of kidney stones.
How is my sample collected?
You may provide a buccal swab (cheek swab) at home, or your provider may arrange a blood draw. All kits contain prepaid return shipping and clear instructions.
How long does it take to get results?
Results are typically ready in about 6 weeks. Your provider will review them with you and help determine next steps, including whether family members should also be tested.
Is genetic counseling available?
Yes. You and your provider can opt in to pre- and post-test genetic counseling during the ordering process. Counseling helps explain what the results mean and how they may affect care.
Will I ever be billed?
No. There is no cost to patients, providers, or insurance for testing ordered through the NovoDETECT™ program.
Questions to ask your doctor about NovoDETECT Primary Hyperoxaluria Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
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