The Kyowa Kirin Sponsored Hypophosphatemia Program
Sponsored, no-charge genetic testing
US and Canada
What is the Kyowa Kirin Sponsored Hypophosphatemia Program?
Kyowa Kirin Inc. and Invitae have partnered to offer sponsored, no-charge genetic testing and counseling to patients being evaluated for a possible diagnosis of X-linked hypophosphatemia (XLH) or tumor-induced osteomalacia (TIO), are aged 6 months or older (for XLH) and 2 years or older (for TIO), reside in the United States or Canada, and meet certain other eligibility criteria.
An accurate diagnosis may impact the clinical management of the condition, including customizing care to a patient's specific needs. The Kyowa Kirin Sponsored Hypophosphatemia Panel (13 genes) is designed to provide optimal diagnostic yield for patients with genetic forms of hypophosphatemia, based on the current scientific understanding. This panel also provides reasonable exclusionary yield for patients who are suspected of having TIO, in whom we would expect normal genetic test results.
The Kyowa Kirin Sponsored Hypophosphatemia Program is intended to improve patient safety and quality of care by shortening the time to an accurate diagnosis, facilitate prompt confirmatory testing, and help patients with XLH or TIO meet payor coverage requirements. Use of or participation in the Kyowa Kirin Sponsored Hypophosphatemia Program does not create any obligation to use, prescribe, or recommend any Kyowa Kirin products or services. No patient or health care provider may seek reimbursement for testing or counseling services provided under the Kyowa Kirin Sponsored Hypophosphatemia Program from any third party, including but not limited to, any government health care programs.
Have an existing Invitae account? Click Order Now below. Otherwise, please follow the instructions below for submitting a test order.
Increasing access to genetic testing and counseling
About XLH
XLH, the most common form of genetic hypophosphatemia, is caused by pathogenic variants in the PHEX gene.1 XLH is an X-linked condition, meaning that the genetic variant (located on the X chromosome) only needs to exist in one copy of a patient’s genes to cause the condition. Women with XLH have a 50% chance of passing the condition to their children, regardless of gender, while men with XLH will pass it on to all their daughters and none of their sons.2
About TIO
TIO is a paraneoplastic condition of abnormal phosphorus and vitamin D metabolism caused by small, benign endocrine tumors that secrete the phosphaturic hormone, fibroblast growth factor 23 (FGF23), leading to impaired bone metabolism.3
Program eligibility
Patients are eligible for this program if they are being evaluated for a possible diagnosis of X-linked hypophosphatemia (XLH) or tumor-induced osteomalacia (TIO), are aged 6 months or older (for XLH) and 2 years or older (for TIO), reside in the United States or Canada, and meet one of the following three criteria below:
Has documented hypophosphatemia and exhibits two or more of the following clinical signs and/or symptoms:
- Muscle pain, weakness, and/or fatigue
- Lower limb deformities
- Fractures/pseudo-fractures
- Tooth abscesses and/or excessive dental caries
- Bone, joint pain, and/or joint stiffness
- Short stature
- Gait abnormalities
- Enthesopathy
Or has a 1st or 2nd degree relative with a confirmed XLH diagnosis
Or has completed the Kyowa Kirin Cares enrollment form
Testing options
This program offers testing with the Kyowa Kirin Sponsored Hypophosphatemia Panel
Note: Re-requisitions are not available through this sponsored testing program
The panel tests for 13 genes:
CLCN5, CTNS, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR
How to order
Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.
Step 1
Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.
Step 2
Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.
Step 3
Receive results online and access resources to guide your discussion with patient about their results.
Genetic counseling services
Individuals in the US and Canada tested through this program are eligible for post-test genetic counseling to help them understand their test results. This service is made available by Invitae at no charge as part of the program. Patients can access genetic counseling by scheduling a session through their patient portal or by contacting Invitae Client Services at 1-800-436-3037 and asking to schedule a genetic counseling appointment.