Diagnosing and managing primary hyperoxaluria type 1 (PH1) as early as possible may mitigate damage.1-5 Urinary oxalate evaluation and genetic testing are current approaches to diagnosing PH1.1,2
Tests to establish PH1 DIAGNOSIS
Genetic testing is recommended by the American Urological Association (AUA) and by the European Hyperoxaluria Consortium OxalEurope to confirm a PH1 diagnosis.2,6
Consider genetic testing2,5
One option for testing when you suspect an inherited stone-forming disease such as PH1 is the Alnylam Act® Program: Third-party genetic testing and counseling programs offered at no charge.
The Alnylam Act® program was developed to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health. While Alnylam provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient identifiable information. Alnylam receives contact information for healthcare professionals who use this program. Genetic testing is available in the US and Canada. Genetic counseling is only available in the US. Healthcare professionals and patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product.
"I have seen quite a few children, adolescents, and young adults who were thought to be idiopathic stone formers who, on further genetic testing, were confirmed to have PH1. PH1 should be considered in children and young adults who are recurrent stone formers with hyperoxaluria."
Test early for the opportunity to mitigate damage1-5
Kidney stones may be a sign of something more serious9
Recurrent kidney stones in an adult or any kidney stone in a child or adolescent could be a sign of a metabolic stone disease like PH1.9,10 Refer these patients for a full work-up and confirm PH1 with genetic testing.9
Genetic testing is available in the United States and Canada, and genetic counseling is only available in the United States. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Alnylam product.