Sponsored, no-charge genetic testing for hypophosphatemia

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Ultragenyx Pharmaceutical Inc. and Invitae have partnered to offer sponsored, no-charge genetic testing to patients aged 6 months and older who are suspected of having 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.  
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 tested through the program, regardless of their test result, will have the option of receiving sponsored post-test 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 meet one of the following criteria below:

  • Has completed the UltraCare® Start Form for XLH; or
  • Has a previous diagnosis related to hypophosphatemia*; or 
  • Has a family member with a confirmed XLH diagnosis; or 
  • Exhibit 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

*Hypophosphatemic disorders are also referred to as X-Linked Hypophosphatemia, X-linked hypophosphatemic rickets, hereditary hypophosphatemic 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), genetic rickets, or familial hypophosphatemia. 

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, CTNS, ​​​​CYP2R1CYP27B1, DMP1, ENPP1, FAH, FAM20C, FGF23, FGFR1GNAS, OCRL, PHEX, SLC34A1, SLC34A3 and VDR. Once Invitae receives the sample, your results will be available in 10 to 21 calendar days on average. 

View panel

How to order

1. Submit an order

To place your online order, click here and follow the on-screen prompts.

To place a paper-based order, download the paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
Hypophosphatemia includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add rerequisition”

Family variant testing for familial insights

If a positive result is identified, testing for your patient’s family members is available.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.

Support every step of the way

Client services

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


Sponsored genetic counseling

Regardless of test result, Ultragenyx is sponsoring no-charge, telephone-based genetic counseling for patients tested through the program 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.

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.