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Test Catalog
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PHEX (Hypophosphatemic Rickets) DNA Sequencing Test |
#855 |
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| Typical Presentation: |
Hypophosphatemia and osteomalacia, bone deformities and short stature if onset during childhood |
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| 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 |
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| Disease(s) tested for: |
X-linked Hypophosphatemic Rickets |
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| Test Details |
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| Test Code: |
855 |
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| Profiles that contain this test: |
Hypophosphatemic Rickets Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of PHEX |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(22), 83904(22), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum: 2 mL) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4°C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
2 - 8 weeks |
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