99058-0LOINC 2.82
DHCR7 gene full mutation analysis in Blood or Tissue by Sequencing
DHCR7 gene Full Mut Anl Bld/T Seq
Component
- DHCR7 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- 7-dehydrocholesterol reductase; 7-DHC reductase; Blood; D7SR; delta-7-dehydrocholesterol reductase; Document; Finding; Findings; full gene sequencing; Full Mut Anl; high-throughput sequencing; HTS; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Point in time; Putative sterol reductase SR-2; Random; sequencing of entire coding region; SLOS; Smith-Lemli-Opitz syndrome; Sterol Delta(7)-reductase; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- 7-dehydrocholesterol reductase
- 7-DHC reductase
- Blood
- D7SR
- delta-7-dehydrocholesterol reductase
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- high-throughput sequencing
- HTS
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Putative sterol reductase SR-2
- Random
- sequencing of entire coding region
- SLOS
- Smith-Lemli-Opitz syndrome
- Sterol Delta(7)-reductase
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue