NovoDETECT™ Genetic Testing Program
A program designed to help get to the root cause of early-onset or recurrent kidney stones ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎ ‎
Uncover the underlying genetic cause of early-onset kidney stones or recurrent kidney stones with NovoDETECT 

This program offers seamless, no-charge genetic testing, primary hyperoxaluria (PH)–specific metabolite testing, and optional genetic counseling to help you identify the genetic cause of your patient’s kidney stones and provide clarity to guide your next steps.  

Comprehensive genetic testing options

  • Genetic testing for eligible patients is conducted through Blueprint Genetics with two-panel options designed to optimize disease management. Please choose the panel best suited for your patient, reflex testing is not allowed as part of the program. 
  • 3-gene NovoDETECT™ Primary Hyperoxaluria panel test for mutations in genes associated with PH: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3) 
  • 45-gene NovoDETECTNephrolithiasis panel test for mutations in PH-associated genes as well as other genes associated with kidney stone diseases 
  • Segregation studies offered through no-charge familial variant testing (FVT) for those with a variant of unknown significance (VUS), likely pathogenic, or pathogenic variant in a gene associated with PH. This testing can be used to uncover how PH was inherited and potential impact on family members. There is no limit to the number of biological family members that can be tested. To order FVT through this program for those eligible at no-charge, please click the “FVT” link associated with the index patient order. If ordering FVT through Nucleus you may need to manually input the following information on the Billing info page: Billing method: Sponsored Testing along with Promotion code: NOVODETECT.


VUS Resolution Program in PH

  • Working together with Quest Diagnostics, a PH urine metabolite assay is conducted to help resolve VUS results in a gene associated with PH (AGXT, GRHPR, or HOGA1), including whether it is pathogenic or benign
  • This program is available to investigate PH-associated VUS results, whether the result was reported by a different diagnostic testing company or through this program. Note that patients with VUS result(s) from a different testing company will need to go through panel testing with one of the program panels before going through the VUS Resolution Program.


Strong foundation of counseling and support

  • Easily opt your patient into pre- and/or post-result genetic counseling from Quest when creating your order. Patients who are opted-in to this aspect of the program will be contacted by the genetic counseling support team to schedule an appointment. 
  • Kit delivery options are designed to streamline the sample collection process. Buccal sample kits can be sent directly to your patient’s home or your office for collection. Blood samples can be collected in your office or in the patient’s home through ExamOne. 
  • A Blueprint Genetics support team serves as your contact for accessing, ordering, and processing tests. Clinical Genomic Services (CGS) consultants are also available to answer clinical questions, help you select the appropriate test, and help to interpret lab results. Reach out through the program support line at 1.833.472.2999 (Monday-Friday, 8 am-8 pm EST). 

Eligibility for no-charge genetic testing

For patients to be eligible for genetic testing through this program, they must live in the US or a US territory and meet at least 1 of the following criteria: 


  • Family history of recurrent kidney stones (RKS) and/or monogenic kidney stone disorders resulting in RKS 
  • Individuals with previous genetic testing with a VUS reported in AGXT, GRHPR, or HOGA1 
  • Nephrocalcinosis 
  • Kidney stones: Adults (≥18 years of age) with history or presence of bilateral/multiple/RKS or Pediatrics (<18 years of age) with history or presence of ≥1 kidney stone 
  • Advanced chronic kidney disease (CKD) of unknown etiology 
  • Laboratory indication (urine/blood biochemistry or stone analysis composition) of monogenic disorders resulting in RKS (ie, elevated oxalate in urine, plasma, or oxalate within stone analysis) 


  • Children (<2 years old) with failure to thrive and impaired renal function 


Informed consent and privacy 

  • No patient-identifiable information or raw sequence data will be shared outside of the program. De-identified patient data will be shared with the program sponsor, as detailed in the program-related consents and forms. Examples of de-identified patient data are clinical diagnosis, age range, sex, and genetic variants associated with kidney stone diseases.  
  • Contact information of the healthcare professional associated with the patient may also be shared as needed. 
  • No samples or identifiable research data will be shared with third parties without express permission from the patient. 
  • Programrelated consents and forms are available on our forms page 

Use of this program and the results should in no way influence or interfere with the HCP’s independent clinical judgment or how to treat, and what therapy to treat with. Similarly, the test is not to influence a patient’s choice, in consultation with their HCP, about next steps in treatment. 

About the program sponsor, Novo Nordisk 

Novo Nordisk is a leading global healthcare company that has been making innovative medicines to help people with diabetes lead longer, healthier lives for 100 years. This heritage has given us experience and capabilities that also enable us to drive change to help people defeat other serious chronic diseases such as obesity and rare blood and endocrine disorders. We remain steadfast in our conviction that the formula for lasting success is to stay focused, think long-term and do business in a financially, socially, and environmentally responsible way. With U.S. headquarters in New Jersey and production and research facilities in seven states, Novo Nordisk employs nearly 6,000 people throughout the country. For more information, visit  

About Quest Diagnostics 

Quest Diagnostics empowers people to take action to improve health outcomes. Derived from the world’s largest database of clinical lab results, our diagnostic insights reveal new avenues to identify and treat disease, inspire healthy behaviors, and improve health care management. Quest annually serves one in three adult Americans and half the physicians and hospitals in the United States, and our nearly 50,000 employees understand that, in the right hands and with the right context, our diagnostic insights can inspire actions that transform lives. 

About ExamOne 

ExamOne, a Quest Diagnostics Company, offers the most comprehensive suite of services to the insurance industry (laboratory testing, paramedical exams, health history collections, medical records retrieval, inspection reports, data products, etc). Convenient specimen collection options include in-office phlebotomy and courier services and more than 1,500 conveniently located exam centers across the United States. Learn more at 

About Blueprint Genetics 

Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community across 14 medical specialties. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare while providing answers that can guide targeted treatment and individualized care for patients. Blueprint Genetics is based in Helsinki and Marlborough, with a customer base spanning over 70 countries. For more information, visit 

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Last modified: March 14, 2024