SMN1 gene full mutation analysis in Blood or Tissue by Sequencing   94221-9

LOINC Code


LOINC code94221-9
nameSMN1 gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull gene sequencing of the SMN1 gene, including all protein-coding regions and intron/exon boundaries of the gene. Testing is performed to confirm a diagnosis of spinal muscular atrophy (SMA) due to variants in SMN1 gene. This test is also used for at-risk family members who have a family history of spinal muscular atrophy but an affected individual is not available for testing, or when disease-causing mutations are unknown.
statusACTIVE

Fully-Specified Name

componentSMN1 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 nameSMN1 gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationBoth

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 updated2.68
last change typeADD  - added

Related Names

BCD541
Blood
Document
Finding
Findings
full gene sequencing
Full Mut Anl
Gemin 1
GEMIN1
Genetics
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Kugelberg-Welander disease
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
Point in time
Random
sequencing of entire coding region
SMA
SMA gene
SMA@
SMA1
SMA2
SMA3
SMA4
SMN
SMNT
SMV
spinal muscular atrophy
Survival motor neuron protein gene
survival of motor neuron 1, telomeric
T-BCD541
TDRD16A
Tissue
Tissue, unspecified
WB
Werdnig-Hoffmann disease
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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