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Part Description

LP64869-8   G6PC gene
The G6PC gene (glucose-6-phosphatase, catalytic subunit) [HGNC Gene ID:4056] is located on chromosome 17q21. Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011] [NCBI Gene ID:2538] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
G6PC gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
G6PC gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
G6PC gene Mut Bld/T Mut Anl
Display Name
G6PC gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
G6PC gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    G6PC gene mutations
    LP453357-8
    • Analyte
      G6PC gene mutations
      LP453357-8
      • Component Numerator
        G6PC gene mutations
        LP453357-8
      • 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=115591-0