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Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing Test
Test Code900611
CPT Codes
81405
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL whole blood
Pediatric (0-3 years): 2 mL whole blood
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Hemolysis may compromise DNA recovery and integrity after 48 hours.
Hemolysis may compromise DNA recovery and integrity after 48 hours.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
Setup Schedule
Set up: Varies; Report available: 14-28 days
Reference Range
No mutation detected
Clinical Significance
Test detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of CASR. Disease(s) tested for: Familial Hypocalciuric Hypercalcemia.
