82532-3
LaboratorySDHB and SDHC and SDHD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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.
LOINC 6-Axis Classification
Component
SDHB & SDHC & SDHD gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
SDHB+SDHC+SDHD Del+Dup + Full Mut Bld/T
Display Name
SDHB and SDHC and SDHD gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82532-3?
LOINC code 82532-3 identifies "SDHB and SDHC and SDHD gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". 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.
What does 82532-3 measure?
This code measures SDHB & SDHC & SDHD gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH 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.