Primary Hyperoxaluria Testing & Counseling

A family living with PH1

primary hyperoxaluria

Alnylam Act®: Third-Party Genetic Testing and Counseling Programs Offered at No Charge

Alnylam is sponsoring no-charge third-party genetic testing and counseling for individuals who may carry a gene mutation known to be associated with primary hyperoxaluria. The Alnylam Act® program was created to reduce barriers to genetic testing and counseling to help people make more informed decisions about their health.


The genetic testing service is available in the United States and Canada and the genetic counseling service is available in the United States. Learn more about what genetic testing and counseling are and how the process works here or by downloading the brochures below. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product.

About Primary Hyperoxaluria

Primary hyperoxaluria (PH) is a group of ultra-rare genetic disorders characterized by the overproduction of oxalate (an end-product of metabolism) and progressive and irreversible decline in kidney function. There are 3 types of PH: type 1 (PH1), type 2 (PH2), and type 3 (PH3). PH1 is the most common, with a prevalence of 1 to 3 per million in North America and Europe.


PH1 often presents in childhood, though patients can be diagnosed at any age and often experience recurrent oxalate stones in the kidneys and urinary tract with symptoms that include flank pain, painful urination, and blood in the urine. Oxalate-induced toxicity causes irreparable damage to the kidneys, eventually leading to kidney failure and multi-organ dysfunction with severe clinical manifestations involving the eyes, bones, skin, and heart. For patients with advanced disease the only viable treatment option is a dual liver/kidney transplant.


HCPs: Want more information about this disease to share with patients? Start Here


While Alnylam provides financial support for this program, all tests and services are performed by independent third parties. Healthcare professionals must confirm that the 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 and counseling may help to:
  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and prevent misdiagnoses
  • Help patients determine if they are eligible to participate in clinical trials
  • Provide information about support resources such as patient advocacy organizations


For testing and instructions, click here.
You can also download the Alnlyam Act® Brochures for Primary Hyperoxaluria below.

For Healthcare Professionals

Download PDF ›

For Patients

Download PDF ›


Interested in learning more about our primary hyperoxaluria studies? Get started here.

Learn More ›


Primary hyperoxaluria is a group of ultra-rare genetic disorders characterized by the overproduction of oxalate and progressive and irreversible decline in kidney function.

Learn More ›


  1. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J of Med. 2013,369:649-58.
  2. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009, 75:1264-1271.


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