CASR gene full mutation analysis in Blood or Tissue by Sequencing

CASR gene Full Mut Anl Bld/T Seq

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]

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

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

3 further terms