SOS1 gene full mutation analysis in Blood or Tissue by Sequencing   82536-4

LOINC Code


LOINC code82536-4
nameSOS1 gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull sequencing analysis of all 23 coding exons and intron/exon boundaries of the SOS1 gene is performed to aid in the diagnosis of SOS1-associated Noonan syndrome and hereditary gingival fibromatosis.[GHR gene: SOS1]
statusACTIVE

Fully-Specified Name

componentSOS1 gene 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.)
methodSequencing

Additional Names

short nameSOS1 gene Full Mut Anl Bld/T Seq

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

Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
GF1
GGF1
GINGF
Heredity
Heritable
HGF
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Next generation sequencing
NGS
NS4
Point in time
Random
sequencing of entire coding region
son of sevenless homolog 1 (Drosophila)
SOS-1
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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