Sponsored, no-charge genetic testing for hypophosphatemia

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Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer sponsored genetic testing to patients aged 6 months and older who are suspected of having a genetic hypophosphatemia disorder, or who have been clinically diagnosed with X-linked hypophosphatemia (XLH) and need confirmatory testing.  
Certain hypophosphatemia disorders have an underlying genetic cause.  An accurate diagnosis may have an impact on clinical management of the condition including customizing care to a patient's specific needs, providing patients with the appropriate genetic counseling support, and connecting patients and their families to patient advocacy organizations and other resources.  
Patients who test positive for XLH, the most common form of genetic hypophosphatemia,1 have the option of receiving sponsored genetic counseling to help make more informed decisions about their health.


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Ordering instructions

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Program eligibility

The patient must be aged 6 months or older and:

  • Have a completed UltraCare® Start Form for XLH
  • Have a previous diagnosis related to hypophosphatemia
  • Exhibit two or more of the following clinical signs and/or symptoms:
    • Family member of a patient with confirmed XLH
    • Short stature
    • Lower limb deformities
    • Fractures/pseudo-fractures
    • Tooth abscesses and/or excessive dental caries
    • Bone, joint pain, and/or joint stiffness
    • Muscle pain, weakness, and/or fatigue
    • Gait abnormalities

About XLH

  • XLH, the most common form of genetic hypophosphatemia, is caused by mutations in the PHEX gene.2
  • XLH is an X-linked dominant disorder, 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 disorder.
  • Women with XLH have a 50% chance of passing the disorder on to each of their children, regardless of gender, while men with XLH will pass the disorder on to all of their daughters and none of their sons.3
  • XLH is also known by a number of other names including X-linked hypophosphatemic rickets, hereditary hypophophatemic rickets, familial hypophosphatemic rickets, vitamin D-resistant rickets (VDRR), vitamin D-resistant osteomalacia, X-linked vitamin D-resistant rickets, hypophosphatemic rickets, hypophosphatemic vitamin D-resistant rickets (HPDR), X-linked rickets (XLR), genetic rickets, and familial hypophosphatemia.1-5
  • An accurate diagnosis of genetic hypophosphatemia may help to inform treatment decisions.

Genetic testing with Invitae

The Hypophosphatemia program offers testing with the Invitae Hypophosphatemia Panel

The Invitae Hypophosphatemia Panel includes genes known to be associated with hypophosphatemia: ALPL, CLCN5, CYP2R1, CYP27B1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1, PHEX, SLC34A3 and VDR. Once Invitae receives the sample, your results will be available in 10 to 21 calendar days on average.

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Family variant testing

If your patient receives a pathogenic or likely pathogenic result, Ultragenyx and Invitae encourage testing of their family members.
  • If a family member meets eligibility criteria, order testing through the Hypophosphatemia program.

  • Family members who don't meet eligibility criteria do not currently qualify for testing under the Hypophosphatemia program. However, Invitae can offer family variant testing. Learn more >

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No-charge ordering made easy

Place your order Collect a sample Results

To place a paper-based order, download the paper order form.

To place an order online:

  1. Sign up for an account and start a new order
  2. Under Test Selection, click on the Partnership Programs tab and enter "XLH" in the Invitae Partner Code field
  3. Use the search bar to find and select the Invitae Hypophosphatemia Panel
  4. Fill in the required patient information
  5. Under Billing Information, select Institutional Billing and leave all fields blank
  6. Complete the Order Authorization section and submit the order
  7. Fill out, print and sign the eligibility criteria form, which includes a required physician consent, and include it with the specimen

To collect a specimen:

  1. Order a specimen collection kit (blood or saliva)*
  2. Collect the specimen and ship it back to Invitae
  3. Include the signed eligibility criteria form with the specimen
  4. For additional information, please see specimen and shipping requirements

To receive results:

  1. Once Invitae receives the sample, you will receive the results in 10 to 21 calendar days on average
  2. If you created an online account, you can view the status of your order by logging into your account
  3. You will receive a notification email once the test results are ready

*Blood, saliva, and assisted saliva samples are accepted; DNA samples are not accepted for this program.

Support every step of the way

Client services

Available to answer your questions or help you through the testing process.


Sponsored genetic counseling

For patients who are diagnosed with XLH, Ultragenyx is sponsoring no-charge, telephone-based genetic counseling for patients in the US. For assistance with genetic counseling or to schedule an appointment, please call InformedDNA, the third-party genetic counseling service, at 888-744-8952.

For patients who test positive for a variant in a gene other than PHEX, you can find a genetic counselor at www.findageneticcounselor.com.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

About Ultragenyx Pharmaceutical Inc.

Ultragenyx is a biopharmaceutical company committed to bringing to patients novel products for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are no approved therapies.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx’s strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.


While Ultragenyx provides financial support for this program, the genetic testing and counseling services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program and shall not seek reimbursement for the testing or services provided under this program from any third party, including but not limited to federal healthcare programs.  Ultragenyx receives de-identified patient data from this program, but at no time does Ultragenyx receive patient identifiable information. Ultragenyx receives contact information for healthcare professionals who use this program. Genetic testing and counseling services are available in the US only. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Ultragenyx product.


  1. Hereditary hyphosphatemic rickets. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets. Updated January 2, 2019. Accessed January 3, 2019.
  2. X-linked hypophosphatemia. Genetic and Rare Diseases Information Center (GARD) website. https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia. Updated 2018. Accessed January 3, 2019.
  3. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
  4. What is XLH? XLH Network website. https://xlhnetwork.org/what-is-xlh. Updated August 13, 2017. Accessed January 3, 2019.
  5. Wang M, Cao X, Cao B. Hypophosphatemic vitamin D-resistant osteomalacia: a case report. Exp Ther Med. 2013;6(3):791-5.