SERPINA1 gene full mutation analysis in Blood or Tissue by Sequencing

SERPINA1 gene Full Mut Anl Bld/T Seq

Definition

Full gene sequence analysis to identify a mutation within the coding regions and intron/exon boundaries of the SERPINA1 gene. Testing is performed for the diagnosis of Alpha-1-antitrypsin (A1A), particularly when a low or deficient alpha-1-antitrypsin serum levels is not explained by routine testing.

A1A; A1AT; AAT; Alpha-1-antitrypsin deficiency; alpha1AT; Anti-elastase gene; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; PI; PI1; Point in time; PRO2275; Protease inhibitor 1; Random; sequencing of entire coding region; Serine (or cysteine) proteinase inhibitor; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

A1A
A1AT
AAT
Alpha-1-antitrypsin deficiency
alpha1AT
Anti-elastase gene
Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
PI
PI1
Point in time
PRO2275
Protease inhibitor 1
Random
sequencing of entire coding region
Serine (or cysteine) proteinase inhibitor
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue