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Part Description

LP189384-3   PCDH15 gene
The PCDH15 gene (protocadherin-related 15) [HGNC Gene ID:14674] is located on chromosome 10q21.1. This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] [NCBI Gene ID:65217] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PCDH15 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
PCDH15 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
PCDH15 gene mut Bld/T Molgen.targeted mu
Display Name
PCDH15 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PCDH15 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    PCDH15 gene mutations
    LP453140-8
    • Analyte
      PCDH15 gene mutations
      LP453140-8
      • Component Numerator
        PCDH15 gene mutations
        LP453140-8
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Example Answer List: LL7597-9

AnswerCodeScoreAnswer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)LA6577-6
VariantLA37192-4

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.83
Last Updated
Version 2.83 (ADD)
Order vs. Observation
Both

Formula (Readable)

If SMN1 is 2 AND the SMN1 SNP is not detected, or SMN1 is 3, >=3 or >=4 then DNR SMN2 Copy number in Gene result. IF SMN1 is 0, 1, or 2 AND the SMN1 SNP is detected, or SMN1 >=2 AND SNP is detected then report SMN2 copy number in Gene results

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=115588-6