82531-5LOINC 2.82
SDHC gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
SDHC gene Del+Dup + Full Mut Anl Bld/T
Definition
- Full sequencing analysis of all 6 coding exons and intron/exon boundaries of the SDHC gene is performed along with large deletion/duplication analysis.[OMIM: 602413][NCBI Gene ID: 6391] This test is performed to aid in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with pathogenic SDHC gene variants.
Component
- SDHC gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; Blood; CYB560; CYBL; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Human integral membrane protein CII-3 mRNA, nuclear gene encoding mitochondrial protein, complete cds; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; PCR; PGL3; Point in time; QPS1; Random; SDH3; sequencing of entire coding region; Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- CYB560
- CYBL
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- Human integral membrane protein CII-3 mRNA, nuclear gene encoding mitochondrial protein, complete cds
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- PCR
- PGL3
- Point in time
- QPS1
- Random
- SDH3
- SDHC gene deletion+duplication & full mutation analysis
- sequencing of entire coding region
- Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue