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| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
CASR DNA Sequencing Test
Test Code93150
CPT Codes
81405<br>Limited Access Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected into two EDTA (lavender-top) tubes, or
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.
Specimen Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Specimen Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 14-28 days
Report Available
28 Days
Reference Range
No sequence variation detected
Clinical Significance
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of CASR.
Typical Presentation: Activating mutations range from mildly activating to strongly activating and lead to the correspondingly milder ADH and the more severe Bartter Syndrome (BS) type 5. ADH is characterized by lifelong hypocalcemia with high-normal or elevated urinary calcium excretion. Individuals with BS type 5 present with hypercalciuric hypocalcemia, and variably, with hypomagnesemia, potassium wasting, hypokalemia, metabolic acidosis, hyperreninemic hyperaldosteronism, and increased urinary prostaglandin excretion.
Typical Presentation: Activating mutations range from mildly activating to strongly activating and lead to the correspondingly milder ADH and the more severe Bartter Syndrome (BS) type 5. ADH is characterized by lifelong hypocalcemia with high-normal or elevated urinary calcium excretion. Individuals with BS type 5 present with hypercalciuric hypocalcemia, and variably, with hypomagnesemia, potassium wasting, hypokalemia, metabolic acidosis, hyperreninemic hyperaldosteronism, and increased urinary prostaglandin excretion.
