82534-9
LaboratoryCASR gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full 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]
LOINC 6-Axis Classification
Component
CASR gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
CASR gene Full Mut Anl Bld/T Seq
Display Name
CASR gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82534-9?
LOINC code 82534-9 identifies "CASR gene full mutation analysis in Blood or Tissue by Sequencing". Full 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]
What does 82534-9 measure?
This code measures CASR gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.