" /> MLYCD gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen - CISMeF





Preferred Label : MLYCD gene deletion duplication & full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : MLYCD gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : MLYCD gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : MLYCD Del Dup Full Mut Anl Bld/T;

LOINC description : Full gene sequence analysis of all coding regions and intron/exon boundaries of the MLYCD gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. Alterations in the MLYCD gene cause malonyl-coenzyme A decarboxylase (MCD) deficiency, a rare autosomal recessive inborn error of fatty acid metabolism.[GHR gene: MLYCD];

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27/04/2025


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