82532-3LOINC 2.82
SDHB and SDHC and SDHD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
SDHB+SDHC+SDHD Del+Dup + Full Mut Bld/T
Definition
- Full sequencing analysis of all coding exons and intron/exon boundaries of the SDHB, SDHC and SDHD genes is performed along with large deletion/duplication analysis by methods such as multiplex ligation-dependent probe amplification (MLPA). This test is performed to aid in the diagnosis of hereditary paraganglioma-pheochromocytoma syndrome associated with pathogenic variants in one of these genes.
Component
- SDHB & SDHC & SDHD gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; Blood; CBT1; CII-4; CWS3; cybS; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; paraganglioma or familial glomus tumors 1; PCR; PGL; PGL1; Point in time; QPs3; Random; SDH4; SDHB+SDHC+SDHD; sequencing of entire coding region; succinate dehydrogenase complex, subunit D, integral membrane protein; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- CBT1
- CII-4
- CWS3
- cybS
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- paraganglioma or familial glomus tumors 1
- PCR
- PGL
- PGL1
- Point in time
- QPs3
- Random
- SDH4
- SDHB & SDHC & SDHD gene deletion+duplication & full mutation analysis
- SDHB+SDHC+SDHD
- sequencing of entire coding region
- succinate dehydrogenase complex, subunit D, integral membrane protein
- Tissue
- Tissue, unspecified
- WB
2 further terms