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Test ID: CSRKM    
Calcium Sensing Receptor (CASR) Gene, Known Mutation

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

83704

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 in family members of affected individuals with known mutations

 

Confirming or ruling out a suspected diagnosis of neonatal severe primary hyperparathyroidism in family members of affected individuals with known mutations

 

Confirming or ruling out a suspected diagnosis of autosomal dominant hypoparathyroidism in family members of affected individuals with known mutations

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 Known Mutation

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