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Part Description

LP208434-3   BCKDHB gene
The BCKDHB gene (branched chain keto acid dehydrogenase E1, beta polypeptide) [HGNC Gene ID:987] is located on chromosome 6q14.1. This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016] [NCBI Gene ID:594] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    BCKDHB gene mutations
    LP453358-6
    • Analyte
      BCKDHB gene mutations
      LP453358-6
      • Component Numerator
        BCKDHB gene mutations
        LP453358-6
      • 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=115589-4