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TESTING FOR PRIMARY HYPEROXALURIA TYPE 1 (PH1)

Diagnosing and managing PH1 as early as possible may mitigate damage.1–5 Oxalate level evaluation and genetic testing are current approaches used to help inform a PH1 diagnosis.1,2

GIVEN THE PROGRESSIVE, UNPREDICTABLE NATURE OF PH1, EARLY DIAGNOSIS IS CRITICAL5,6

If PH1 is suspected, some common methods seen in clinical practice to help test for the disease are listed below.

This testing information is provided for educational purposes only and is not intended to replace the independent medical judgement of any healthcare professional.

Diagnosing PH1 Diagram

Adapted from Groothoff JW, et al. Nat Rev Nephrol. 2023.

ERKNet and OxalEurope 2023 clinical practice recommendations advise that all patients with suspected PH1 undergo genetic testing7

  • Genetic assessment remains the gold standard of diagnosing PH1 in patients, as patients with certain PH1 genotypes respond strongly to pyridoxine, which can be difficult to measure7
  • ERKNet and OxalEurope 2023 clinical practice recommendations also express the importance of genetic counselling for couples in which both partners are carriers of mutations that predispose to PH1, to enable early diagnosis and management of affected children7
  • Genetic testing for PH1 should be performed within 30 days of a patient presenting with suspected PH and severe kidney failure, according to ERKNet and OxalEurope clinical practice recommendations7
  • Genetic findings can positively impact clinical care by avoiding unnecessary treatments and invasive procedures, allowing for tailored treatment and achieving a more accurate prognosis8–10
  • Where genetic testing is unavailable, the guidelines recommend biochemical assessment of urinary oxalate in a 24-hour sample7

eGFR, estimated glomerular filtration rate.

WHERE TO TEST FOR PH1

France:

Centres de Référence des maladies rénales rares (Filiére ORKiD):

MARHEA – Paris 
01 44 49 43 82

https://www.filiereorkid.com/crmr_marhea/

Néphrogones – Lyon
04 27 85 61 28

https://www.chu-lyon.fr/service-de-nephrologie-rhumatologie-dermatologie-pediatriques

SoRare – Toulouse
05 34 55 86 64 (enfants) ‐ 05 61 32 32 93 (adultes)

https://www.chu-toulouse.fr/maladies-rares-301

Italy:

Genilam

Genilam Italy

Genetic testing can detect certain genetic mutations in patients, and help doctors provide a more accurate diagnosis.

Access the Genilam service for Primary Hyperoxaluria Type 1

Spain:

Diagnostic tests can be requested free of charge by a healthcare professional. In case of suspicion of hyperoxaluria, the healthcare professional can request the test by writing an email to this address:
proyecto.exhplora@vallhebron.cat

UK:

Commissioned and paid for by the National Health Service (NHS) via Trust mapped Genomic Laboratory Hub.

Primary Hyperoxaluria Genetics

  • Whole gene sequencing for mutations in the AGXT (PH1), GRHPR (PH2) and HOGA1 (PH3) genes
  • Typical turnaround time: Step one test (screening for commonest mutations), 10 days; Whole gene sequencing, 28 days
  • Contact Hyperoxaluria Rare Disease Collaborative Network for advice

R257 Unexplained young onset end-stage renal disease11

  • Testing Criteria
  • End-stage renal disease developing under the age of 36, with no identifiable cause detectable by renal biopsy, biochemistry, imaging or clinical assessment
  • Use of this test in adults over the age of 36 may be appropriate after expert clinical review, if there is strong clinical suspicion of a monogenic disorder
  • Testing Criteria for Semi-Rapid Testing
  • Acutely unwell children or adults where monogenic young onset end-stage renal disease is considered highly likely to be the primary cause of the phenotype in the patient
  • Where testing will provide an immediate change to treatment or clinical management for the patient, e.g., to inform a decision about renal transplant, therapeutic intervention or prenatal testing for an ongoing at-risk pregnancy
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References: 1. Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781–1791. 2. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729–1736. 3. Raju DL, Cantarovich M, Brisson ML, et al. Am J Kidney Dis. 2008;51(1):e1–e5. 4. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649–658. 5. Milliner DS, Harris PC, Sas DJ, et al. Primary hyperoxaluria type 1. GeneReviews® [Internet]. Updated 15 August 2024. Accessed January 2026. https://www.ncbi.nlm.nih.gov/books/NBK1283/ 6. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264–1271. 7. Groothoff JW, Metry E, Deesker L, et al. Nat Rev Nephrol. 2023;19(3):194–211. 8. Blasco M, Quiroga B, García-Aznar JM, et al. Am J Kidney Dis. 2024;84(6):719–730.e1. 9. Dai R, Wang C, Shen Q, et al. Pediatr Nephrol. 2024;39(9):2549–2553. 10. Mallawaarachchi AC, Fowles L, Wardrop L, et al. Clin J Am Soc Nephrol. 2024;19(7):887–897. 11. National Health Service (NHS). National genomic test directory: testing criteria for rare and inherited disease. v.7 July 2024. Accessed January 2026. https://www.england.nhs.uk/wp-content/uploads/2024/07/national-genomic-test-directory-rare-and-inherited-disease-eligibility-criteria-v7.pdf

PH1-INTR-00036 | January 2026

Alnylam Pharmaceuticals is responsible for the funding and content of this website. The site is intended for Healthcare Professionals in Europe, Middle East and Africa. For disease awareness purposes only.

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