Application Detail
Description of Medical Service
Analysis of plasma or serum fibroblast growth factor 23 (FGF-23) for patients with a high pre-test probability of X-linked hypophosphatemic rickets to determine eligibility for burosumab.Description of Medical Condition
Hypophosphatemic rickets is a condition in which, due to abnormal excess production of an endocrine hormone FGF23, there is excessive loss of phosphate in the urine that results in low serum phosphate. Because phosphate is an essential element in the formation of hydroxyapatite, the mineral that deposits on osteoid protein to produce a rigid skeleton, low phosphate levels produce under mineralisation of the skeleton, a condition called rickets or osteomalacia.A small number of individuals, perhaps 300 in Australia, have developed osteomalacia because of phosphate deficiency due to excessive FGF23 production. In over 80% of cases this is due to an inactivation mutation in the PHEX gene that is an important negative regulator of the production of FGF23.
Reason for Application
New MBS itemMedical Service Type
Investigative technologyPrevious Application Number/s
Not ApplicableAssociated Documentation
Application Form
Application Form (PDF 204 KB)Application Form (Word 44 KB)
Consultation Survey
Consultation Survey (PDF 165 KB)Consultation Survey (Word 29 KB)
MSAC Consultation
MSAC consultation input must be received by no later than Friday, 14 June 2024 for it to be considered by MSAC at its August 2024 meeting.
For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process