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Diagnosing PH

If you or a loved one are having any signs or symptoms of PH, your healthcare provider may perform a series of tests to confirm a PH diagnosis, if appropriate.

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Diagnosis usually begins with careful 24-hour urine collection and kidney stone analysis

  • All of your urine will be collected over a 24-hour period and checked to measure how much oxalate is present
  • If your kidneys have moderate-to-severe damage, your healthcare provider may also collect a blood sample to check oxalate levels in your blood
  • Your kidney stones may be examined to see if they are made up of calcium oxalate
  • If you have high levels of oxalate in your urine or blood and kidney stones made of calcium oxalate, it’s possible that you have PH, and your healthcare team may run more tests to confirm a PH diagnosis
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Rule out other causes

The next step is to rule out other things that could be causing high oxalate levels, including:

  • Difficulty taking in (absorbing) nutrients from food
  • Gastrointestinal diseases such as Crohn’s disease or short bowel syndrome
  • A high-oxalate diet
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Genetic testing

A definitive diagnosis requires genetic testing

  • A healthcare provider will take a blood sample, saliva sample, or cheek swab, and send the sample to a specialized laboratory for testing
  • The laboratory will look for mutations in AGXT, GRHPR, or HOGA1 genes
  • If one of these genes has mutations, this will show that you or your loved one has PH, and will also tell you which subtype of PH it is 

    • AGXT mutations: PH1
    • GRHPR mutations: PH2
    • HOGA1 mutations: PH3
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The order in which these steps are performed can vary. Only genetic testing is required for a definitive diagnosis of PH.

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NovoDETECT™ can help provide the answers you need

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 making health management decisions.

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 kidney stones or RKS.

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Learn more about genetic testing at MyNovoDETECT™.

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Genetic testing looks for changes in genes that may cause kidney stones to form.

  • NovoDETECT™ 3-gene PH panel can help identify changes in genes specifically related to PH: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3)
  • 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
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“You want to know what's happening to your body. I am grateful for genetic testing. We wouldn't have known what was happening in my body if I hadn't been able to get it. I would say to other people - push for it as early as you can. I think it's an incredible tool that that should be used whenever appropriate.”


- Person living with PH1

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    PH runs in families

    If one family member is diagnosed with PH, other family members should be screened too.

    How PH is inherited

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