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| Test code: | 856 |
| Type of disorder: | Bone Diseases |
| Disease(s) tested for: | Hypophosphatemic Rickets |
| Genes Included: | FGF23, |
| Profiles that contain this test: | Hypophosphatemic Rickets Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of FGF23 Typical Presentation: Hypophosphatemia and osteomalacia, bone deformities and short stature if onset during childhood Indications for testing: Progressive bowing of legs in a child more than 18 months of age with normal vitamin D levels and marked hypophosphatemia. Hypophosphatemia and hyperphosphaturia in the presence of inappropriately normal vitamin D levels at any age. Family history of hypophosphatemic rickets or hypophosphatemic osteomalacia |
| Methodology: | Sanger Sequencing |
| Reference Range: | No sequence variation detected |
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
| CPT: | 81404(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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