AutoICD API

81884-9

Laboratory

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

Definition

Mutation 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.

LOINC 6-Axis Classification

Component

NIPA1 gene & REEP1 gene full mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Sequencing

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

NIPA1+REEP1 Full Mut Anl Bld/T Seq

Display Name

NIPA1 and REEP1 gene full mutation analysis Sequencing Doc (Bld/Tiss)

Related Names

BloodC2orf23DocumentFindingFindingsFSP3full gene sequencingFull Mut AnlGeneticsHeredityHeritablehigh-throughput sequencingHMN5BHTSInheritedMGC35570Molecular pathologyMOLPATHMOLPATH.MUTATIONSMutMutationsNext generation sequencingNGSNIPA1+REEP1non imprinted in Prader-Willi/Angelman syndrome 1Non-imprinted in Prader-Willi/Angelman syndrome 1Point in timeRandomreceptor accessory protein 1sequencing of entire coding regionSPG31SPG6TissueTissue, unspecifiedWBWhole bloodWhole blood or TissueYip2a

Frequently Asked Questions

What is LOINC code 81884-9?

LOINC code 81884-9 identifies "NIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by Sequencing". Mutation 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.

What does 81884-9 measure?

This code measures NIPA1 gene & REEP1 gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT 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.