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
A Blueprint Genetics support team serves as a single point of contact for accessing, ordering, and processing tests through our call center at (833) 472-2999.
- Genetic tests can easily be ordered through:
- A seamless and secure online portal, Nucleus
- A downloadable Test Requisition Form that can be returned via email, fax, or mail
- When ordering be sure to complete the necessary information pertaining to the selected panel and your patient
- Order 1 or 2 panels: PH panel (3 gene) or nephrolithiasis panel including PH (45 gene) with choice of blood or buccal test. Be sure to select the panel that is most appropriate for your patient
- During ordering, you can immediately opt in to pre- and post-result genetic counseling to help guide you and your patient through the testing process
- Kits will contain the consent form that the patient needs to review, sign, and return with their test sample
- 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 ®
- Kits contain all materials and prepaid shipping labels
- At any time, via the Nucleus portal,
easily check the status of your order and review test results—often
available within 6 weeks
- Discuss test results and next steps with your patient, including family testing for PH
Genetic testing may identify a variant of uncertain significance (VUS) in a patient for whom, at the time of interpretation, the pathogenicity is unknown.11
VUS Resolution Program in PH
- Working together with Quest Diagnostics, a PH urine metabolite
assay is conducted to help resolve a VUS result in PH, including
whether it is pathogenic or benign
- Offers segregation studies to investigate how PH was inherited and how it may impact family members
- Further investigates PH-associated VUS results, whether the result was reported by a different diagnostic testing company or through this program
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.
Cogal AG, Arroyo J, Shah RJ, et al. Comprehensive genetic analysis reveals complexity of monogenic urinary stone disease. Kidney Int Rep. 2021;6(11):2862-2884.