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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The NovoDETECT program provides clinicians in the US with access to a sponsored genetic test for patients suspected of primary hyperoxaluria (PH). The panel covers major PH-related genes and may clarify diagnosis when clinical or biochemical signs (stones, nephrocalcinosis, elevated oxalate) suggest PH. Results support patient counseling, guide care decisions, and enable genetic counseling — at no cost to patient or provider.
When to consider this test
Patient selection
- Providers may order testing for patients in the US or US territories who meet one or more of the following criteria:
- Family history of recurrent kidney stones or suspected monogenic stone disease
- Prior testing showing a VUS in AGXT, GRHPR, or HOGA1
- Evidence of nephrocalcinosis
- Kidney stone history consistent with:
- Adults: bilateral, multiple, or recurrent stones
- Pediatrics: one or more stones
- Advanced CKD without identified etiology
- Lab findings suggesting monogenic RKS (e.g., high oxalate in urine, blood, or stone composition)
- Children under 2: failure to thrive with impaired renal function
Workflow
How to use this program
- 1
Order Test
Order the NovoDETECT™ test through Nucleus or the TRF. Select either the PH 3-gene panel or the 45-gene nephrolithiasis panel. Optional pre- and post-test genetic counseling can be added during ordering.
- 2
Collect Sample
Use the provided buccal kit (shipped to patient or office) or arrange blood draw (in-office or via ExamOne®). Ensure the signed consent form is included. Kits contain prepaid shipping.
- 3
Review Results
Monitor order status and access results through Nucleus—often within 6 weeks. Review results with the patient and discuss next steps, including potential family testing for PH.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
What does the NovoDETECT™ program include?
The program provides no-charge Blueprint Genetics testing (PH panel or nephrolithiasis panel), optional pre-/post-test genetic counseling, and full access to the Nucleus portal for ordering and result review.
Who qualifies for testing?
Eligible patients must live in the US or a US territory and meet ≥1 criterion such as recurrent or bilateral stones, pediatric stone disease, nephrocalcinosis, biochemical evidence of monogenic stone disease, unexplained CKD, a family history of PH or monogenic RKS, or infants <2 with failure to thrive and impaired renal function.
Which tests can I order?
Providers may select the 3-gene Primary Hyperoxaluria panel (AGXT, GRHPR, HOGA1) or the 45-gene nephrolithiasis panel, depending on clinical presentation. Buccal or blood samples are accepted.
How do I order testing?
Orders can be placed through the Nucleus online portal or via downloadable TRF (submitted by email, fax, or mail). A NovoDETECT™ sample kit must also be requested.
How does sample collection work?
Buccal kits can be shipped directly to patients or the provider’s office. Blood draws may be completed in-clinic or via ExamOne®. Kits include all required materials and prepaid shipping.
When are results available?
Results are generally available within 6 weeks and can be viewed at any time via Nucleus.
Is genetic counseling included?
Yes. Providers can opt in to pre- and post-test counseling at the time of order entry. Counseling is delivered through Blueprint Genetics at no cost.
Can family testing be ordered?
Yes. If a pathogenic or likely pathogenic variant is identified, cascade testing may be recommended to evaluate at-risk family members.
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