82530-7LOINC 2.82
SDHB gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
SDHB gene Del+Dup + Full Mut Anl Bld/T
Definition
- Full sequencing analysis of all 8 coding exons and intron/exon boundaries of the SDHB gene is performed along with large deletion/duplication analysis.[OMIM: 185470][NCBI Gene ID: 6390] This test is performed to aid in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with pathogenic SDHB gene variants.
Component
- SDHB gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; Blood; CWS2; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; IP; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; PCR; PGL4; Point in time; Random; SDH; SDH1; SDHIP; sequencing of entire coding region; Succinate dehydrogenase complex, subunit B, iron sulfur; succinate dehydrogenase complex, subunit B, iron sulfur (Ip); Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- CWS2
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- Inherited
- IP
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- PCR
- PGL4
- Point in time
- Random
- SDH
- SDH1
- SDHB gene deletion+duplication & full mutation analysis
- SDHIP
- sequencing of entire coding region
- Succinate dehydrogenase complex, subunit B, iron sulfur
- succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue