LOINC display name : VHL gene del dup and full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : VHL gene deletion duplication and full mutation analysis in Blood or Tissue by Molecular
genetics method;
LOINC short name : VHL gene Del Dup Full Mut Anl Bld/T;
LOINC description : Full sequencing analysis of the three coding exons and intron/exon boundaries of the
VHL gene as well as gross deletion/duplication analysis to determine gene copy number
for coding exons 1-3 is performed.[OMIM: 608537][NCBI Gene ID: 7428] This test is
performed for patients with suspected of having von Hippel-Lindau (VHL) disease, an
autosomal dominant cancer predisposition syndrome characterized by retinal angiomas,
hemangioblastomas, pheochromocytomas (PCCs), renal cell carcinomas, pancreatic cysts,
and neuroendocrine tumors.[PMID: 8493574] For genetic testing for suspected VHL-related
erythrocytosis, or familial erythrocytosis, type 2 (ECYT2) disease, see VHL gene full
mutation analysis [LOINC: 82528-1].;
Has component