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Lab Dept:
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Anatomic Pathology
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Test Name:
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AUTOSOMAL DOMINANT HYPOCALCEMIA (CASR) EVALUATION SEQUENCING
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General Information
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Lab Order Codes:
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ADHB
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Synonyms:
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Bartter Syndrome (CASR) Sequencing; ADH Sequencing; CASR Sequencing
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CPT Codes:
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81405 – Molecular Pathology, Level 6
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Test Includes:
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Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of CASR
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Logistics
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Indications:
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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.
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Lab Testing Section:
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Anatomic Pathology – Sendouts
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Referred to:
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Athena Diagnostics Laboratory (Athena Test#: 825)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Monday – Thursday by 15:00 only
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Turnaround Time:
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2 – 3 weeks
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Special Instructions:
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Collect specimen MONDAY – THURSDAY by 15:00 only.
Include forms Athena requisition and "The Medical Practitioner's Authorization form" with specimens or patient to the laboratory.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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10 mL (Minimum: 2 mL) blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store refrigerated. Ship at room temperature via overnight courier to Athena MON-THURS ONLY so specimens arrive at Athena on a weekday. Forward promptly.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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No sequence variation detected
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Limitation:
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N/A
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Methodology:
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Polymerase Chain Reaction (PCR), DNA Sequencing.
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References:
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Athena Diagnostics Laboratory April 2010
(800) 394-4493 Fax: (508) 753-5601
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Updates:
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1/13/2011: CPT update
1/29/2013: CPT 2013 update
3/12/2013: CPT changed from 81479 to 81405
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