LOINC display name : SDHB and SDHC and SDHD gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : SDHB and SDHC and SDHD gene deletion duplication and full mutation analysis in Blood
or Tissue by Molecular genetics method;
LOINC short name : SDHB SDHC SDHD Del Dup Full Mut Bld/T;
LOINC description : Full sequencing analysis of all coding exons and intron/exon boundaries of the SDHB,
SDHC and SDHD genes is performed along with large deletion/duplication analysis by
methods such as multiplex ligation-dependent probe amplification (MLPA). This test
is performed to aid in the diagnosis of hereditary paraganglioma-pheochromocytoma
syndrome associated with pathogenic variants in one of these genes.;
Has component