LOINC Molecular pathology, mutations codes
Molecular pathology, mutations (MOLPATH.MUT): one class of the LOINC code system.
1,293 codes · page 13 of 26 · every class · by category · by group · panels · answer lists · parts
CMT demyelinating gene mutations found or Tissue (Blood, molecular genetics method nominal) 49504-4 MYOC gene mutations found or Tissue (Blood, molecular genetics method nominal) 49506-9 Holoprosencephaly gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49562-2 CPT2 gene mutations found or Tissue (Blood, molecular genetics method nominal) 49678-6 CPT2 gene p.Arg503Cys (Blood, qualitative, molecular genetics method) 49684-4 CPT2 gene p.R549DC (Blood, qualitative, molecular genetics method) 49685-1 CPT2 gene p.Arg631Cys (Blood, qualitative, molecular genetics method) 49686-9 SH3TC2 gene mutations found or Tissue (Blood, molecular genetics method nominal) 49704-0 LMNA gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49705-7 ARSA gene mutations found or Tissue (Blood, molecular genetics method nominal) 49706-5 KCNQ2 gene mutations found or Tissue (Blood, molecular genetics method nominal) 49707-3 TTR gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49708-1 SOD1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49710-7 FBN1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49735-4 COL5A1 gene+COL5A2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49854-3 SMN1 gene+SMN2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49857-6 G6PC gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49862-6 FH gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49872-5 POU3F4 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49873-3 ABCB4 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 49874-1 SLC6A4 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50330-0 HTT gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50621-2 AS gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50623-8 DMD gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50626-1 F13A1 gene p.Val34Leu or Tissue (Blood, qualitative, molecular genetics method) 50750-9 CMT demyelinating gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50994-3 BRCA1+BRCA2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50995-0 HBB gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 50996-8 CFTR gene mutations tested for or Tissue (Blood, molecular genetics method) 50998-4 ABCB4 gene mutations found or Tissue (Blood, molecular genetics method nominal) 51476-0 SLC14A1 gene mutations found or Tissue (Blood, molecular genetics method nominal) 51652-6 ATP7B gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 51756-5 POMT1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 51757-3 POMT2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 51758-1 RAI1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 51759-9 F9 gene mutations tested for or Tissue (Blood, molecular genetics method nominal) 51772-2 HEXA gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 51773-0 YY1 gene mutations found or Tissue (Blood, molecular genetics method nominal) 51778-9 CFH gene mutations found or Tissue (Blood, molecular genetics method nominal) 51779-7 UGT1A1 gene allele 1 or Tissue (Blood, molecular genetics method nominal) 51951-2 UGT1A1 gene allele 2 or Tissue (Blood, molecular genetics method nominal) 51952-0 SERPINE1 gene c.-675 4G+5G or Tissue (Blood, qualitative, molecular genetics method) 52757-2 SERPINE1 gene c.-844A>G or Tissue (Blood, qualitative, molecular genetics method) 52758-0 KRAS gene mutations found (Bone Marrow, molecular genetics method nominal) 53620-1 NRAS gene mutations found (Bone Marrow, molecular genetics method nominal) 53621-9 HRAS gene mutations found (Bone Marrow, molecular genetics method nominal) 53623-5 SLC26A4 gene p.Glu384Gly (Blood, qualitative, molecular genetics method) 53722-5 SLC26A4 gene.p.Leu236Pro (Blood, qualitative, molecular genetics method) 53723-3 SLC26A4 gene p.Thr416Pro (Blood, qualitative, molecular genetics method) 53724-1 SLC25A4 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 53725-8