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Hereditary Interstitial Kidney Disease (UMOD) DNA Sequencing Test - Athena #770
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
HIKDA(ATH#770)
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 - 56 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Renal, Cystic Diseases (1)
Typical presentation: Renal urate hypoexcretion, hyperuricemia, frequent precocious gout predating the onset of kidney disease
Disease(s) tested for: Familial Juvenile Hyperuricemic (or Gouty) Nephropathy (FJHN) and Medullary Cystic Kidney Disease Type II (MCKD2)
Utility: Detects sequence variations in Uromodulin gene (UMOD)
Typical presentation: Renal urate hypoexcretion, hyperuricemia, frequent precocious gout predating the onset of kidney disease
Disease(s) tested for: Familial Juvenile Hyperuricemic (or Gouty) Nephropathy (FJHN) and Medullary Cystic Kidney Disease Type II (MCKD2)
Utility: Detects sequence variations in Uromodulin gene (UMOD)
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
