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Nephrogenic Diabetes Insipidus (AVPR2) DNA Sequencing Test - Athena #851
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
AVPR2(ATH#851)
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Renal
Typical presentation: Polyuria and polydipsia
Indications for testing: Severe polyuria and polydipsia in male infants or children Family history of nephrogenic diabetes insipidus
Disease(s) tested for: Nephrogenic Diabetes Insipidus
Utility: 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
Disease(s) tested for: Nephrogenic Diabetes Insipidus
Utility: Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of AVPR2
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
