76033-0LOINC 2.82
HEXA gene full mutation analysis in Blood or Tissue by Sequencing
HEXA gene Full Mut Anl Bld/T Seq
Component
- HEXA gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- beta-N-acetylhexosaminidase gene; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GM2-gangliosidosis; Heredity; Heritable; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) gene; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; N-acetyl-beta-glucosaminidase gene; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tay-Sachs disease; Tissue; Tissue, unspecified; TSD; WB; Whole blood; Whole blood or Tissue
Index terms
- beta-N-acetylhexosaminidase gene
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- GM2-gangliosidosis
- Heredity
- Heritable
- hexosaminidase A (alpha polypeptide)
- hexosaminidase A (alpha polypeptide) gene
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- N-acetyl-beta-glucosaminidase gene
- Next generation sequencing
- NGS
- Point in time
- Random
- sequencing of entire coding region
- Tay-Sachs disease
- Tissue
- Tissue, unspecified
- TSD
- WB
- Whole blood
- Whole blood or Tissue