Sign in →

Catalog ID Hypophos Gene Hypophosphatemia Genetic Testing (free sponsored testing)

Important Note

Order: Ref Misc Referral Lab Test

Comment: Invitae Hypophosphatemia

Note: This is FREE genetic testing offered to patients 6 months of age and over who have signs and symptoms of a genetic hypophosphatemia disorder or who have been clinically diagnosed with XLH and needs confirmatory testing.

Eligibility

The patient must be 6 months of age or older and:

A) Have clinical diagnosis for XLH needing confirmation

-OR-

B) Have a previous diagnosis related to hypophosphatemia

-OR-

C) Exhibit 2 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

Specimen Requirements

Request specimen collection kit from the Specimen Referral Laboratory at 706-721-4868 or send the patient to the 2nd floor MOB Laboratory.

Fill out the requisition that is under the "Resources" section on the left side of this screen. It must have a physician's signature. Submit the requisition form with the completed kit or have the patient present it to the laboratory for draw.

Turn Around Time

10-21 days

Performing Laboratory

Invitae

https://www.invitae.com/en/hypophosphatemia/