94204-5LOINC 2.82
HMBS gene full mutation analysis in Blood or Tissue by Sequencing
HMBS Full Mut Anl Bld/T Seq
Definition
- Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the HMBS gene. Testing is performed to confirm a diagnosis of hydroxymethylbilane synthase deficiency/acute intermittent porphyria.[GHR gene: HMBS]
Component
- HMBS gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; hydroxymethylbilane synthase; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; PBGD; PBG-D; Point in time; PORC; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; UPS; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- hydroxymethylbilane synthase
- Inherited
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- Next generation sequencing
- NGS
- PBG-D
- PBGD
- Point in time
- PORC
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- UPS
- WB
- Whole blood
- Whole blood or Tissue