SDHB gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method   82530-7

LOINC Code


LOINC code82530-7
nameSDHB gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
descriptionFull 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.
statusACTIVE

Fully-Specified Name

componentSDHB gene deletion+duplication & full mutation analysis
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameSDHB gene Del+Dup + Full Mut Anl Bld/T

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Ask At Order Entry

Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.

81247-9Master HL7 genetic variant reporting panel

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.65
last change typeMIN  - change to field other than name

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

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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