CASR gene full mutation analysis in Blood or Tissue by Sequencing   82534-9

LOINC Code


LOINC code82534-9
nameCASR gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull sequencing analysis of all 6 coding exons and intron/exon boundaries of the CASR gene is performed to establish a diagnosis of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism.[NCBI Gene ID: 846] This test is also performed as part of a workup for primary hyperparathyroidism, idiopathic hypoparathyroidism, and Bartter syndrome.[OMIM: 601199]
statusACTIVE

Fully-Specified Name

componentCASR gene full mutation analysis
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodSequencing

Additional Names

short nameCASR gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Ask At Order Entry

Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.

81247-9Master HL7 genetic variant reporting panel

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

test rank18756 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name

Related Names

Blood
calcium-sensing receptor
Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)
CAR
CaSR
Document
EIG8
Extracellular calcium-sensing receptor precursor
FHH
FIH
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
GPRC2A
Heredity
Heritable
HHC
HHC1
high-throughput sequencing
HTS
HYPOC1
Inherited
MGC138441
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Next generation sequencing
NGS
NSHPT
Parathyroid Cell calcium-sensing receptor
PCAR1
Point in time
Random
sequencing of entire coding region
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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