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Test ID: CSRMS    
Calcium Sensing Receptor (CASR) Gene, Mutation Screen

Secondary ID A test code used for billing and in test definitions created prior to November 2011

83703

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirming or ruling out a suspected diagnosis of familial hypocalciuric hypercalcemia

 

As part of the workup of some patients with parathyroid hormone

 

Confirming or ruling out a suspected diagnosis of neonatal severe primary hyperparathyroidism

 

Confirming or ruling out a suspected diagnosis of autosomal dominant hypoparathyroidism

 

As part of the workup of idiopathic hypoparathyroidism

 

As part of the workup of patients with Bartter's syndrome

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

CASR Mutation Screen

Aliases Lists additional common names for a test, as an aid in searching

ADH
Bartter's syndrome
Calcium Sensing Receptor
FHH
Hypercalcemia
Hyperparathyroidism
Hypoparathyroidism
NSPHT
Primary hyperparathyroidism