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Athena #851 Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing
MessageHemolysis may compromise DNA recovery and integrity after 48 hrs
Test Code
851
CPT Codes
81404(1)
Preferred Specimen
whole Blood
Minimum Volume
10 mL (pediatric minimum: 2 mL)
Instructions
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection)
Transport Container
yellow or lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated For short periods (until shipped) at 4oC
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene
Setup Schedule
M-Th
Report Available
28 days
Reference Range
No mutation detected
Clinical Significance
"Type of Disorder: Kidney Disorders, Diabetes
Typical Presentation: Polyuria and polydipsia
Indications for Testing: Severe polyuria and polydipsia in male infants or children
Family history of nephrogenic diabetes insipidus
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of AVPR2"
Typical Presentation: Polyuria and polydipsia
Indications for Testing: Severe polyuria and polydipsia in male infants or children
Family history of nephrogenic diabetes insipidus
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of AVPR2"
