82530-7
LaboratorySDHB gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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.
LOINC 6-Axis Classification
Component
SDHB gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
SDHB gene Del+Dup + Full Mut Anl Bld/T
Display Name
SDHB gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82530-7?
LOINC code 82530-7 identifies "SDHB gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". 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.
What does 82530-7 measure?
This code measures SDHB gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.