Defects in Renal Phosphate Handling Gene Panel
Test Overview:
A comprehensive genetic panel designed to identify pathogenic variants in genes involved in renal phosphate reabsorption, phosphate transport, and phosphate-regulating hormone pathways. It helps investigate inherited disorders causing abnormal phosphate levels and renal phosphate wasting.
Clinical Indications:
- Persistent or unexplained hypophosphatemia
- Renal phosphate wasting
- Hereditary hypophosphatemic rickets
- Vitamin D–resistant rickets
- Tumor-induced/FGF23-related phosphate disorders with suspected genetic basis
- Familial hyperphosphatemic conditions
- Growth retardation and skeletal deformities
- Bone pain, fractures, or recurrent rickets
- Unexplained abnormalities in tubular phosphate handling
Genes Commonly Evaluated:
- PHEX
- FGF23
- DMP1
- ENPP1
- SLC34A1
- SLC34A3
- SLC9A3R1
- FGFR1
- Other genes associated with phosphate homeostasis and renal tubular phosphate transport
Test Methodology:
Next-Generation Sequencing (NGS) with analysis of relevant coding regions and splice-site variants; deletion/duplication analysis may be included depending on the panel design.
Sample Type:
EDTA Whole Blood
Clinical Utility:
Identification of the underlying genetic cause can support accurate diagnosis, family screening, genetic counselling, prognosis, and appropriate clinical management of inherited phosphate-handling disorders.
Interpretation:
Results should be interpreted along with serum phosphate, calcium, ALP, PTH, vitamin D, FGF23, renal phosphate excretion, clinical findings, and family history. A negative result does not completely exclude a genetic cause.
