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Test Catalog
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Nephrogenic Diabetes Insipidus Evaluation |
#854 |
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| Type of Disorder: |
Kidney Disorders, Diabetes |
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| Typical Presentation: |
Polyuria and polydipsia |
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| Indications for Testing: |
Severe polyuria and polydipsia in male infants or children, family history of nephrogenic diabetes insipidus |
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| Disease(s) tested for: |
Nephrogenic Diabetes Insipidus |
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| Test Details |
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| Test Code: |
854 |
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| Profile includes: |
AQP2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test, AVPR2 (Nephrogenic Diabetes Insipidus) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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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 AVPR2 and AQP2 |
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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(9), 83909(1), 83904(9), 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: |
Lavender top (EDTA) or yellow top (ACD-A) |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hours |
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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 hours after collection); ship Monday through Thursday only. |
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| Test Turnaround: |
2 - 8 weeks |
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