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Test ID CASRZ CASR Gene, Full Gene Analysis

Useful For

Establishing a diagnosis of familial hypocalciuric hypercalcemia

 

As part of the workup of some patients with primary hyperparathyroidism

 

Establishing a diagnosis of neonatal severe primary hyperparathyroidism

 

Establishing a diagnosis of autosomal dominant hypoparathyroidism

 

As part of the workup of idiopathic hypoparathyroidism

 

As part of the workup of patients with Bartter syndrome

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

Reporting Name

CASR Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided

Day(s) and Time(s) Performed

Performed weekly; Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81405-CASR (calcium-sensing receptor) (eg, hypocalcemia), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CASRZ CASR Gene, Full Gene Analysis 82534-9

 

Result ID Test Result Name Result LOINC Value
37446 Result Summary 50397-9
37447 Result 82534-9
37448 Interpretation 69047-9
37449 Additional Information 48767-8
37450 Specimen 31208-2
37451 Source 31208-2
37452 Released By 18771-6

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Calcium Sensing Receptor (CASR) Gene Testing Patient Information (T551) in Special Instructions