Novo Nordisk, Inc and BluePrint Genetics are providing advance notice of the discontinuation of the NovoDETECT® sponsored Diagnostic Genetic Testing Program for Recurrent Kidney Stones (RKS).
- March 16, 2026: NovoDETECT® sample collection kits will no longer be available to order on www.novodetect.com or on www.blueprintgenetics.com. Please note, kits have an expiration date printed on the sample collection kit box. Expired kits will not be accepted or processed.
- April 19, 2026: All NovoDETECT® orders must be fully submitted in Nucleus. On April 20th, Nucleus ordering for NovoDETECT® will no longer be available.
- April 24, 2026: NovoDETECT® samples and required consent forms must be received by Blueprint Genetics. Samples received on or after April 25th will not be accepted.
If you have any questions or need assistance, please contact Blueprint Genetics by emailing support@blueprintgenetics.com or by calling the Call Center at 1-(833) 472-2999.
For additional questions, please contact the Novo Nordisk Customer Care Center at 1-(800)-727-6500.
Diagnosing the underlying causes can be complicated by the rarity of associated hereditary conditions, wide clinical variability, and overlapping symptoms of many genetic kidney stone disorders.1,2
Underlying causes of RKS often go undiagnosed, which can result in progressive damage to the kidneys, leading to chronic kidney disease (CKD) and eventually end-stage kidney disease (ESKD).1-3
Delays in diagnosis can be detrimental.2,4
Early-onset (childhood) kidney stones or recurrent kidney stones (RKS) may be an indication of Primary hyperoxaluria (PH), a group of rare, genetic metabolic disorders caused by monogenic, biallelic mutations in AGXT, GRHPR, or HOGA1, resulting in elevated urinary oxalate and the formation of calcium oxalate.6,8
PH carries a significant patient burden, often requiring dialysis and dual liver/kidney or kidney transplant.9
Monico CG, Milliner DS. Genetic determinants of urolithiasis. Nat Rev Nephrol. 2011;8(3):151-162.
Ferraro PM, D’Addessi A, Gambaro G. When to suspect a genetic disorder in a patient with renal stones, and why. Nephrol Dial Transplant. 2013;28(4):811-820.
Milliner DS, Harris PC, Sas DJ, et al. Primary hyperoxaluria type 1. GeneReviews®. 2022. https://www.ncbi.nlm.nih.gov/books/NBK1283
Edvardsson VO, Goldfarb DS, Lieske JC, et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013;28(10):1923-1942.
Cochat P, Hulton S-A, Acquaviva C, et al. Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012;27(5):1729-1736.
Lai C, Pursell N, Gierut J, et al. Specific inhibition of hepatic lactate dehydrogenase reduces oxalate production in mouse models of primary hyperoxaluria. Mol Ther. 2018;26(8):1983-1995.
Hopp K, Cogal AG, Bergstralh EJ, et al. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 2015;26(10):2559-2570.
Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009;75(12):1264-1271.
Wang X, Danese D, Brown T, et al. Primary hyperoxaluria type 1 disease manifestations and healthcare utilization: a multi-country, online, chart review study. Front Med (Lausanne). 2021;8:703305. doi: 10.3389/fmed.2021.703305
Groothoff JW, Metry E, Deesker L, et al. Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol. 2023;19(3):194-211.