Bloodwork

LOINC Molecular pathology, mutations codes

Molecular pathology, mutations (MOLPATH.MUT): one class of the LOINC code system.

1,293 codes · page 23 of 26 · every class · by category · by group · panels · answer lists · parts

SPG3A gene mutation analysis limited to known familial mutations or Tissue (Blood, molecular genetics method) 81877-3 Subtelomere analysis or Tissue (Blood, molecular genetics method) 81878-1 TNNT2 gene mutation analysis limited to known familial mutations or Tissue (Blood, molecular genetics method) 81880-7 TNNT3 gene mutation analysis limited to known familial mutations or Tissue (Blood, molecular genetics method) 81881-5 TSC2 and PKD1 gene deletion and duplication mutation analysis or Tissue (Blood, mlpa) 81882-3 NIPA1 and REEP1 gene full mutation analysis or Tissue (Blood, sequencing) 81884-9 FGFR3 gene p.Gly380Arg targeted mutation analysis or Chorionic villus sample (Amniotic Fluid, molecular genetics method) 82137-1 GJB2 gene c.35delG targeted mutation analysis or Tissue (Blood, molecular genetics method) 82138-9 LRRK2 gene Arg1441Gly and Gly2019Ser targeted mutation analysis or Tissue (Blood, molecular genetics method) 82139-7 MYD88 gene p.Leu265Pro targeted mutation analysis or Tissue (Blood, molecular genetics method) 82140-5 NBN gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 82515-8 LAMC2 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 82516-6 LAMA3 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 82517-4 IVD gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 82518-2 VHL gene full mutation analysis or Tissue (Blood, sequencing) 82528-1 SDHD gene deletion+duplication and full mutation analysis or Tissue (Blood, molecular genetics method) 82529-9 SDHB gene deletion+duplication and full mutation analysis or Tissue (Blood, molecular genetics method) 82530-7 SDHC gene deletion+duplication and full mutation analysis or Tissue (Blood, molecular genetics method) 82531-5 VHL gene deletion+duplication and full mutation analysis or Tissue (Blood, molecular genetics method) 82533-1 CASR gene full mutation analysis or Tissue (Blood, sequencing) 82534-9 KRAS gene full mutation analysis or Tissue (Blood, sequencing) 82535-6 SOS1 gene full mutation analysis or Tissue (Blood, sequencing) 82536-4 RAF1 gene full mutation analysis or Tissue (Blood, sequencing) 82537-2 CALR gene exon 9 full mutation analysis or Tissue (Blood, molecular genetics method) 82538-0 JAK2 gene.p.Val617Phe mutant/Normal (Bone Marrow, molecular genetics method) 85039-6 HBA2 gene alpha 3.7kb triplication (Blood, qualitative, molecular genetics method) 85091-7 FLT3 gene internal tandem duplication (Bone Marrow, qualitative, molecular genetics method) 85100-6 BRAF gene p.Val600Glu (Bone Marrow, qualitative, molecular genetics method) 85101-4 EGFR gene c.2369C>T actual/normal cell-free DNA (molecular genetics method) 85383-8 PTEN gene mutations found in Colorectal cancer specimen (molecular genetics method nominal) 85506-4 PIK3CA gene mutations found in Colorectal cancer specimen (molecular genetics method nominal) 85507-2 KRAS gene mutations found in Colorectal cancer specimen (molecular genetics method nominal) 85509-8 NRAS gene mutations found in Colorectal cancer specimen (molecular genetics method nominal) 85510-6 BRAF gene mutations found in Colorectal cancer specimen (molecular genetics method nominal) 85511-4 KIT gene c.2447A>T or Tissue (Blood, qualitative, molecular genetics method) 88519-4 APOB gene mutations found or Tissue (Blood, molecular genetics method nominal) 89323-0 BRAF gene p.Val600Lys (Tissue, qualitative, molecular genetics method) 89861-9 SUMF1 gene full mutation analysis or Tissue (Blood, sequencing) 89997-1 CFTR gene full mutation analysis or Tissue (Blood, sequencing) 90256-9 GLA gene full mutation analysis or Tissue (Blood, sequencing) 90257-7 LDLR gene full mutation analysis or Tissue (Blood, sequencing) 90258-5 NAT2 gene full mutation analysis or Tissue (Blood, sequencing) 90259-3 CYBB gene full and NCF1 gene c.75_76delGT analysis or Tissue (Blood, molecular genetics method) 90743-6 GJB2 gene full mutation analysis or Tissue (Blood, sequencing) 90851-7 ABCB1 gene targeted mutation analysis or Tissue (Blood, molecular genetics method) 91672-6 F9 gene mutation analysis limited to known familial mutations or Chorionic villus sample (Amniotic Fluid, molecular genetics method) 91681-7 F5 gene c.1691G>A or Tissue (Blood, molecular genetics method nominal) 91712-0 CSF3R gene exons 14 and 17 targeted mutation analysis or Tissue (Blood, molecular genetics method) 92674-1 FLT3 gene p.Asp835 mutations or Tissue (Blood, qualitative, molecular genetics method) 92843-2 FLT3 gene internal tandem duplication/Normal or Tissue (Blood, molecular genetics method) 92844-0