Genetic Counseling for Individuals with XLH

Ultragenyx Pharmaceutical has partnered with InformedDNA to provide genetic counseling at no charge to individuals diagnosed with X-linked hypophosphatemia (XLH) and their family members.

A genetic diagnosis can have implications for both the individual as well as their family members. Genetic testing can confirm a diagnosis, establish the specific genetic cause, and help determine if the individual is eligible to participate in clinical trials or receive medical therapy. Genetic counseling is an integral part of understanding the significance of a genetic diagnosis for the individual and family members.

Eligibility Criteria for Genetic Counseling at No Charge through this Sponsored Program:

The patient must be age 6 months or older and:

  • Diagnosed with XLH

– OR –

  • Have a family member diagnosed with XLH

What to Expect from Genetic Counseling

The InformedDNA board-certified genetic counselors working on this program are highly trained in X-linked hypophosphatemia. As part of the genetic counseling appointment, the genetic counselor will:

Telegenetic counseling
  • Collect medical history and a 3-4 generation family history;
  • Discuss the clinical features of XLH, underlying genetics of XLH, the PHEX gene, and X-linked inheritance;
  • Review and explain the individual’s PHEX genetic test results (if available), and general implications for personal health and risks to family members;
  • Help to identify other family members who may also be at-risk and could benefit from genetic counseling and genetic testing;
  • Facilitate genetic testing with at-home sample collection for family members.

Because our appointments occur over the phone, family members may participate in the call, regardless of geographic location. Click here to learn more about our genetic counseling process.

Healthcare Providers

  • Use our convenient online form submission process to refer your patient for genetic counseling.
  • Or, download this referral form and then fax the completed form to our Patient Care team.

Patients and Caregivers

  • Use our convenient online form submission process to request an appointment for genetic counseling.
  • Or, call 888-744-8952 to speak with a member of our Patient Care team.

Learn More

For additional information on Ultragenyx, please visit their website at

Patient Support Resources

If you or your patient does not meet the above eligibility criteria for this sponsored genetic counseling program, please use this link to request an appointment for genetic counseling or call (800) 975-4819 to speak with a member of our Patient Care team.

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