LOINC display name : TSC2 and PKD1 gene del and dup mutation analysis MLPA Doc (Bld/Tiss);
LOINC long common name : TSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by
MLPA;
LOINC short name : TSC2 PKD1 Del Dup Bld/T MLPA;
LOINC description : Detection of deletions or duplications in the TSC2 gene and the adjacent PKD1 gene
in a DNA sample by multiplex ligation probe amplification (MLPA) for the diagnosis
of tuberous sclerosis and TSC2/PKD1 contiguous gene syndrome. This term was created
for, but not limited in use to, the submitter's kit, MRC Holland MLPA P046-C1 TSC2
probemix.;
Has component