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{component}   LP432695-7

Laboratory   LP29693-6

Lab terms not yet categorized   LP248770-2

NIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by Sequencing   81884-9

LOINC Code


LOINC code81884-9
nameNIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by Sequencing
descriptionMutation analysis of the REEP1 (SPG31) and NIPA1 genes is performed in patients with an autosomal dominant inheritance pattern of a hereditary spastic paraplegia (HSP), especially if no mutation is found in the SPAST (SPG4) or ALT1 (SPG3A) genes. The submitter's lab performs mutation analysis of exons 1-7 and flanking intronic regions of the REEP1 gene and exons 2-5 and flanking intronic regions of the NIPA1 gene by sequencing methods.
statusACTIVE

Fully-Specified Name

componentNIPA1 gene & REEP1 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 nameNIPA1+REEP1 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
C2orf23
Document
Finding
Findings
FSP3
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
high-throughput sequencing
HMN5B
HTS
Inherited
MGC35570
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
 Mut
Mutations
Next generation sequencing
NGS
NIPA1+REEP1
non imprinted in Prader-Willi/Angelman syndrome 1
Non-imprinted in Prader-Willi/Angelman syndrome 1
Point in time
Random
receptor accessory protein 1
sequencing of entire coding region
SPG31
SPG6
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue
Yip2a

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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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