LOINC Molecular pathology, mutations codes
Molecular pathology, mutations (MOLPATH.MUT): one class of the LOINC code system.
1,293 codes · page 11 of 26 · every class · by category · by group · panels · answer lists · parts
JAK2 gene p.Val617Phe or Tissue (Blood, qualitative, molecular genetics method) 43399-5 TYMP gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 43585-9 COX10 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 43744-2 DYS gene mutations tested for or Tissue (Blood, molecular genetics method nominal) 43745-9 KCNQ1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 43746-7 OCA2 gene mutations found or Tissue (Blood, molecular genetics method nominal) 43747-5 SCO1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 43748-3 SCO2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 43749-1 SURF1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 43750-9 CIAS1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44419-0 CACNA1A gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44420-8 PKD1 gene+PKD2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44421-6 ALOX3+ALOX12B gene mutations found or Tissue (Blood, molecular genetics method nominal) 44606-2 KCNQ1 gene mutations tested for or Tissue (Blood, molecular genetics method nominal) 44608-8 PWS gene mutations found or Tissue (Blood, molecular genetics method nominal) 44617-9 ACTA1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44700-3 BHD gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44701-1 MC4R gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44703-7 NEB gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44704-5 ALS4 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 44705-2 GNE gene mutations found or Tissue (Blood, molecular genetics method nominal) 44803-5 CASR gene mutations found or Tissue (Blood, molecular genetics method nominal) 45190-6 CAPN3 gene mutations found or Tissue (Blood, molecular genetics method nominal) 45191-4 DPYD gene mutations found or Tissue (Blood, molecular genetics method nominal) 45284-7 FMR1 gene targeted mutation analysis (Amniotic Fluid, molecular genetics method) 45327-4 NF1 gene mutations found (Amniotic Fluid, molecular genetics method nominal) 45331-6 NF2 gene mutations found (Amniotic Fluid, molecular genetics method nominal) 45332-4 PKD1 gene+PKD2 gene mutations found or Tissue (Blood, molecular genetics method nominal) 46207-7 ABCA3 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 46225-9 SGCA gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 46226-7 RHCE gene allele Cc (Amniotic Fluid, molecular genetics method nominal) 46731-6 MCOLN1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 46965-0 GBA gene mutations tested for or Tissue (Blood, molecular genetics method nominal) 46988-2 CFTR gene targeted mutation analysis (Amniotic Fluid, molecular genetics method) 46989-0 ASPA gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 46990-8 BLM gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 46991-6 DYS gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 46992-4 BCS1L gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47397-5 RB1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47416-3 EYA1 gene mutations found or Tissue (Blood, molecular genetics method nominal) 47955-0 CNR1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47956-8 FLT3 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47958-4 GFAP gene mutations found or Tissue (Blood, molecular genetics method nominal) 47959-2 GLRA1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47960-0 ACVRL1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47961-8 JAG1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47962-6 JAK3 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47963-4 MVK gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47964-2 NCF2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 47966-7 NSD1 gene targeted mutation analysis or Tissue (Blood, qualitative, molecular genetics method) 47967-5