Nephrology sponsored testing programs 

Invitae partners with biopharma companies to offer sponsored testing for patients who meet eligibility criteria

Alnylam Act® Primary Hyperoxaluria Type 1

Primary Hyperoxaluria Type 1

Invitae and Alnylam have partnered to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with primary hyperoxaluria type 1.

The Alnylam Act program was created to potentially enable diagnosis and to provide genetic counseling to help people make more informed decisions about their health.

Hypoparathyroidism

Calcilytix Therapeutics Inc. and Invitae have partnered to offer sponsored, no-charge genetic testing for individuals with an established diagnosis of non-surgical hypoparathyroidism or for individuals who have a first-degree relative with an established diagnosis of genetic hypoparathyroidism.

Hypoparathyroidism is estimated to affect ~70-80K individuals in the US. Symptoms of hypoparathyroidism can include hypocalcemia-related neuromuscular (i.e. cramps, paresthesia, and/or seizures), cardiovascular, and neurological (i.e. fatigue and/or cognitive impairment) manifestations. An accurate diagnosis may have an impact on clinical management of the condition. 

Hypophosphatemia

Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer a sponsored, no-charge genetic test for patients aged 6 months or older who are suspected of a genetic hypophosphatemia disorder, who have been clinically diagnosed with XLH and need confirmatory testing, or have a family member with a confirmed XLH diagnosis.  

Hypophosphatemia (Canada)

Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer a sponsored, no-charge genetic test for patients aged 6 months or older who are suspected of a genetic hypophosphatemia disorder, or who have been clinically diagnosed with XLH and need confirmatory testing.

KIDNEYCODE

Unlock the underlying cause of CKD with genetic testing. Reata Pharmaceuticals and Invitae have partnered to offer sponsored, no-charge genetic testing and counseling for patients with chronic kidney disease (CKD) to facilitate diagnosis of several rare forms of CKD, including Alport syndrome, FSGS, and one form of ADPKD (PKD2).

By providing precise genetic information, KIDNEYCODE can help guide important, often time-sensitive health decisions for patients at risk for progressive CKD.