LOINC display name : MECP2 gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : MECP2 gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : MECP2 gene Del Dup Full Mut Anl Bld/T;
LOINC description : Full sequence analysis is performed to test for the presence of a mutation in all
coding regions and intron/exon boundaries of the MECP2 gene. Deletion/duplication
analysis, such as by multiplex ligation probe amplification (MLPA), is also performed.
This test is used for diagnosing Rett syndrome or other methyl-CpG-binding protein
2 (MeCP2)-related disorders.[GHR gene: MECP2];
Has component