55195-2LOINC 2.82
DHCR7 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
DHCR7 gene Mut Anl Bld/T
Component
- DHCR7 gene targeted mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- 7-dehydrocholesterol reductase; 7-DHC reductase; Blood; D7SR; delta-7-dehydrocholesterol reductase; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Putative sterol reductase SR-2; Random; 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
- Genetics
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mut Anl
- Mutations
- PCR
- Point in time
- Putative sterol reductase SR-2
- Random
- SLOS
- Smith-Lemli-Opitz syndrome
- Sterol Delta(7)-reductase
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue