If you or a loved one has had a kidney stone at a young age, or have had repeated or multiple stones, known as recurrent kidney stones, or RKS—it’s important to find out why.
Kidney stones may be caused by genes passed down at birth, and the sooner you know, the better. It is important to get a proper and timely diagnosis so that appropriate management can be initiated.
- Single kidney stone in an infant or child under the age of 18 years old
- Recurrent kidney stones (RKS) in adults
- Calcium deposits in the kidneys (known as nephrocalcinosis)
- Family history of kidney stones
- Chronic kidney disease with no known cause
- Failure to thrive (child growing slower than expected) and end-stage kidney disease in infants
Sponsored by Novo Nordisk, NovoDETECT™ is a no-charge diagnostic testing and genetic counseling service that can help guide you and your healthcare provider in managing genetic kidney stone diseases, including PH. You, your healthcare provider, or your health insurance provider will not be billed for this program.
Testing is provided through Blueprint Genetics and Quest Diagnostics, offering both genetic and PH-specific metabolite testing—important tools that help find the root cause of early-onset or recurrent kidney stones.
Genetic testing looks for changes (mutations) in genes that may cause kidney stones to form.
- NovoDETECT™ 3-gene PH panel can help identify mutations in
genes specifically related to PH
- NovoDETECT™ 45-gene panel tests for changes in PH-associated genes, plus other genes linked to kidney stone disease
- Your healthcare provider will determine which panel is right for you
Genetic testing can also have an inconclusive result, called a variant of unknown significance (VUS), when this occurs in the genes associated with PH, NovoDETECT™ uses further testing to help clarify the results.
No patient-identifiable information or data will be shared outside of the program. Examples of de-identified patient data are clinical diagnosis, age range, sex, and genetic variants associated with kidney stone diseases. Your healthcare provider’s contact information may be shared as needed.
No samples or identifiable research data will be shared with third parties without your express permission.
- Your healthcare provider will first confirm your eligibility
- If eligible, your healthcare provider will order a 3-gene PH or 45-gene NovoDETECT™ genetic test kit at no charge with a choice of blood or buccal (cheek swab) test
- When ordering, your healthcare provider may opt-in to provide you with pre- and post-genetic counseling to help you through the testing process
- If opted in, a genetic counselor will reach out to you to schedule an appointment or answer any questions you may have
- The test kit will be sent to your home or healthcare provider’s office, depending on the sample collection type (buccal or blood)
- Blood samples can be collected in your healthcare provider’s office, or conveniently in your home through ExamOne, a Quest Diagnostics company, at no charge to you or your insurance
- A buccal sample can be taken at home. Carefully follow test kit instructions on how to take an inner cheek swab. For assistance call (833) 472-2999 or watch this video to learn how to properly take a cheek swab
- Follow the instructions found within the kit and then return the sample using the pre-paid FedEx shipping label
- The consent form provided in the kit must be signed and returned with your sample
- Results will be made available to your healthcare provider via
a secure online portal
- Results take an average of 6 weeks
- Is it possible that my early-onset symptoms have an underlying genetic cause?
- Should I talk to a genetic counselor? How will a genetic counselor be able to help me?
- What if I can't find information about my family’s medical history?
- How will genetic testing impact the rest of my family? Should others, including those with kidney stones, be tested too?
- What tests should I have done and how often?
NovoDETECT™ should not affect treatment choice. Your healthcare provider and you will make the ultimate decision on your care. The full range of treatment options should always be considered before determining those that may be most appropriate for you.
- Testing of appropriate family members including parents, siblings, and children
- Options for you to consider that may help manage your PH
Take a closer look at how PH is inherited.
Learn about current management options.
Novo Nordisk is committed to helping find the root cause of early-onset kidney stones or RKS through diagnostic testing, including reducing delays in diagnosis of PH.
Talk to your healthcare provider about next steps.