| 48010-3 |
Genechip ID |
ID |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
Genechip ID [Identifier] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
333^Third Wave Invader^3WAVE |
|
|
|
|
|
MOLPATH.MISC |
|
48010-3 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
Genechip ID Bld/T |
|
|
|
N |
|
Blood; Ident; Identifier; Intradermal; MISC; Miscellaneous molecular pathology; Molecular genetics; Molecular pathology; MOLPATH; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.26 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48011-1 |
Genechip version |
ID |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
Genechip version [Identifier] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
1 |
|
|
|
|
|
MOLPATH.MISC |
|
48011-1 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
Genechip Version Bld/T |
|
|
|
N |
|
Blood; Ident; Identifier; MISC; Miscellaneous molecular pathology; Molecular genetics; Molecular pathology; MOLPATH; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.26 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48012-9 |
Reference sequence |
Seq |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
Reference sequence [Nucleotide sequence] in Blood or Tissue by Molecular genetics method Nominal |
|
MAJ |
DefinitionDescription |
|
|
|
241 GGAGTAATCA GCAACTCAGG GGGACCTGTA CGAGTCTATA GCCTACCTGG TCGAGAAAAC 301 TATTCCTCAG TAGATGCCAA TGGCATCCAG TCTCAAATGC TTTCTAGATG GTCTGCTTCT 361 TTCACAGTAA CTA |
|
|
|
|
|
MOLPATH.MISC |
|
48012-9 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
Ref Sequence Seq Bld/T |
|
|
|
N |
|
Blood; MISC; Miscellaneous molecular pathology; Molecular genetics; Molecular pathology; MOLPATH; Nominal; PCR; Point in time; Random; Ref Sequence; RefSeq; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Changed Property from "ID" to "Seq", a more representative Property for this term. |
0 |
| 48013-7 |
Genomic reference sequence identifier |
ID |
Bld/Tiss |
Pt |
Nom |
|
|
ACTIVE |
Genomic reference sequence [ID] |
|
MIN |
DefinitionDescription |
|
|
|
NT_010194.16 (NCBI Genomic RefSeq id.version for ACTC1 Gene), NC_001807.4 (NCBI Genomic RefSeq id.version for all Mitochondrial Genes) |
|
|
|
|
|
HL7.GENETICS |
|
48013-7 |
|
|
|
|
Observation |
|
|
|
0 |
Genomic reference sequence ID |
|
|
|
N |
|
Blood; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Ident; Identifier; Inherited; MOLPATH.GENERAL; Nominal; Point in time; Random; Ref Sequence; Reference sequence ID; RefSeq; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.58 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48014-5 |
Sequence variation panel |
- |
Bld/Tiss |
Pt |
- |
Molgen |
|
ACTIVE |
Sequence variation panel - Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
PANEL.MOLPATH |
|
48014-5 |
|
Molgen |
|
|
Order |
|
|
|
0 |
Sequence Variation Panel Bld/T |
|
|
|
N |
|
Blood; Molecular genetics; Molecular pathology; MOLPATH; Pan; Panel.molpath; Panl; PCR; Pnl; Point in time; Positional Variant Panel; Random; Sequence Variant Panel; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.61 |
2.21 |
|
Panel |
|
|
|
|
|
|
|
|
|
0 |
| 48015-2 |
Individual allele panel |
- |
Bld/Tiss |
Pt |
- |
Molgen |
|
ACTIVE |
Individual allele panel |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
PANEL.HL7.GENETICS |
|
48015-2 |
|
Molgen |
|
|
Order |
|
|
|
0 |
Individual Allele Pnl |
|
|
|
N |
|
Blood; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Individual Allele Pnl; Inherited; Molecular genetics; MOLPATH.GENERAL; Pan; PANEL.HL7.GENETICS; Panl; PCR; Pnl; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.61 |
2.21 |
|
Panel |
|
|
|
|
|
|
|
|
|
0 |
| 48016-0 |
Genechip kit panel |
- |
Bld/Tiss |
Pt |
- |
Molgen |
|
ACTIVE |
Genechip kit panel - Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
PANEL.MOLPATH |
|
48016-0 |
|
Molgen |
|
|
Order |
|
|
|
0 |
Genechip Kit Pnl Bld/T |
|
|
|
N |
|
Blood; Genechip Kit Pnl; Molecular genetics; Molecular pathology; MOLPATH; Pan; Panel.molpath; Panl; PCR; Pnl; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.61 |
2.21 |
|
Panel |
|
|
|
|
|
|
|
|
|
0 |
| 48017-8 |
Sequencing methodology panel |
- |
Bld/Tiss |
Pt |
- |
Molgen |
|
ACTIVE |
Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
PANEL.MOLPATH |
|
48017-8 |
|
Molgen |
|
|
Order |
|
|
|
0 |
Sequencing Method Pnl Bld/T |
|
|
|
N |
|
Blood; Molecular genetics; Molecular pathology; MOLPATH; Pan; Panel.molpath; Panl; PCR; Pnl; Point in time; Random; Sequencing Method Pnl; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.73 |
2.21 |
|
Panel |
|
|
|
|
|
|
|
|
|
0 |
| 48018-6 |
Gene identifier |
ID |
Bld/Tiss |
Pt |
Nom |
|
|
ACTIVE |
Gene studied [ID] |
|
MIN |
DefinitionDescription |
|
|
|
HUGO Gene ID (HGNC) |
|
|
|
|
|
HL7.GENETICS |
|
48018-6 |
|
|
|
|
Observation |
|
|
|
0 |
Gene studied ID |
|
|
|
N |
|
Blood; Gene ID; Gene studied ID; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Ident; Identifier; Inherited; MOLPATH.GENERAL; Nominal; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.73 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48019-4 |
DNA change type |
Type |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
DNA change type |
|
NAM |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
HL7.GENETICS |
|
48019-4 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
DNA Change Type |
|
|
|
N |
|
Blood; Deoxyribonucleic acid; Exchange; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Inherited; Molecular genetics; MOLPATH.GENERAL; Nominal; PCR; Point in time; Random; Replace; Tissue; Tissue, unspecified; Typ; WB; Whole blood; Whole blood or Tissue |
2.64 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG |
0 |
| 4802-5 |
HLA-B77(15) |
PrThr |
Bld/Tiss^Donor |
Pt |
Ord |
|
|
ACTIVE |
HLA-B77(15) [Presence] in Donor |
|
MAJ |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
HLA |
|
4802-5 |
|
|
|
|
Observation |
|
|
|
0 |
HLA-B77(15) Donr Ql |
|
|
|
|
|
Blood; Donr; Genetics; Heredity; Heritable; HLA ANTIGEN; Human Leukocyte Antigen; Inherited; Ordinal; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
1 |
|
|
|
|
|
|
|
|
|
|
This test is commonly performed on cells found in saliva and buccal swabs as well as blood specimens. Changed specimen from 'Bld^donor' to 'Bld/Tiss^donor' to represent both specimen types.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 48020-2 |
Forward primer |
Seq |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
Forward primer [Nucleotide sequence] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
cctcattagtcgtt |
|
|
|
|
|
MOLPATH.MISC |
|
48020-2 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
Forward Primer Seq Bld/T |
|
|
|
N |
|
Blood; MISC; Miscellaneous molecular pathology; Molecular genetics; Molecular pathology; MOLPATH; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.26 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48021-0 |
Reverse primer |
Seq |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
Reverse primer [Nucleotide sequence] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
tagttagtgtgaaagaagc |
|
|
|
|
|
MOLPATH.MISC |
|
48021-0 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
Reverse Primer Seq Bld/T |
|
|
|
N |
|
Blood; MISC; Miscellaneous molecular pathology; Molecular genetics; Molecular pathology; MOLPATH; Nominal; PCR; Point in time; Random; REV; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.42 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48022-8 |
Coagulation surface induced.lupus sensitive actual/Normal |
RelTime |
PPP |
Pt |
Qn |
|
|
ACTIVE |
aPTT.lupus sensitive actual/normal (normalized LA screen) |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
COAG |
|
48022-8 |
|
|
|
|
Observation |
|
|
|
0 |
Screen aPTT/normal |
|
|
|
N |
|
Act/Nor; Activated partial thromboplastin time; aPTT; aPTT with Platelin LS; aPTT-LA; aPTT-LA actual; Coag; Control; Hematology; Heme; Little(A)PTT; Partial Thromboplastin Time; Plas; Platelet poor plasma; Point in time; PTT; QNT; Quan; Quant; Quantitative; Random; RlTm; Surf |
2.73 |
2.21 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 48023-6 |
HIV 1 proviral DNA |
PrThr |
Ser/Plas |
Pt |
Ord |
Probe.amp.tar |
|
ACTIVE |
HIV 1 proviral DNA [Presence] in Serum or Plasma by NAA with probe detection |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
48023-6 |
|
Probe.amp.tar |
|
|
Both |
|
|
|
0 |
HIV 1 pro DNA SerPl Ql NAA+probe |
|
|
|
N |
|
3 Self-Sustaining Sequence Replication; 3SR SR; AIDS; Amplif; Amplification; Amplified; Deoxyribonucleic acid; DNA NUCLEIC ACID PROBE; DNA probe; HIV type 1; HIV type I; HIV1; HIV1 proviral DNA; Human immunodeficiency virus; i; ID; Infectious Disease; InfectiousDisease; LAT; LCR; Ligase chain reaction; Ligation-activated transcription; Microbiology; NAA+probe; NAAT; NASBA; Nucleic acid sequence based analysis; Ordinal; PCR; Pl; Plasma; Plsm; Point in time; Polymerase chain reaction; PR; Probe amp; Probe with ampification; Probe with target amplification; QBR; QL; Qual; Qualitative; Random; Screen; SDA; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Strand Displacement Amplification; TMA; Transcription mediated amplification |
2.73 |
2.21 |
|
|
|
|
|
|
|
|
|
|
The Property has been changed from ACnc to Threshold to reflect the new model for ordinal terms where results are based on a cut-off value.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 48024-4 |
AS gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
AS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48024-4 |
|
Molgen |
|
|
Both |
|
|
|
0 |
AS gene Mut Anl Bld/T |
|
|
|
N |
|
Angelman syndrome; Arterial Stenosis; AS; Blood; Genetics; Heredity; Heritable; HLAB; Identity or presence; Inherited; major histocompatibility complex, class I, B; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; SPDA1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.63 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. |
0 |
| 48025-1 |
Gene mutations tested for |
Num |
Bld/Tiss |
Pt |
Qn |
Molgen |
|
ACTIVE |
Gene mutations tested for [#] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48025-1 |
|
Molgen |
|
|
Both |
|
|
|
0 |
Gene Mut Tested Bld/T |
|
|
|
N |
|
Blood; Cnt; Count; Gene mut tested; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Tested; Mutation; Muts; Number; PCR; Point in time; QNT; Quan; Quant; Quantitative; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.69 |
2.21 |
|
|
|
|
|
|
|
{#} |
|
|
Changed Component from "Gene XXX mutations tested for" to "Gene mutations tested for" to make it more clear that the number of mutations tested for are the subject of this concept rather than the gene, and removing "XXX" does not change the meaning of this term. |
0 |
| 48026-9 |
ITGA2B gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
ITGA2B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48026-9 |
|
Molgen |
|
|
Both |
|
|
|
0 |
ITGA2B gene Mut Anl Bld/T |
|
|
|
N |
|
BDPLT16; BDPLT2; Blood; CD41; CD41 gene; CD41B; CD41B gene; Genetics; Glanzmann thrombasthenia; GP2B; GPalpha Iib; GPIIb; GT; GTA; Heredity; Heritable; HPA3; Identity or presence; Inherited; Integrin alpha-IIb precursor; integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41); ITGAB; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Platelet membrane glycoprotein Iib; Point in time; PPP1R93; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.63 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. |
0 |
| 48027-7 |
MT-ND4 gene.c.G15257A |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
MT-ND4 gene c.G15257A [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48027-7 |
|
Molgen |
|
|
Both |
|
|
|
0 |
MT-ND4 c.G15257A Bld/T Ql |
|
|
|
N |
|
Blood; Genetics; Heredity; Heritable; Inherited; Leber hereditary optic neuropathy; LHON; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MTND4; MT-ND4 c.G15257A; NADH dehydrogenase subunit 4; NADH ubiquinone oxidoreductase subunit ND4; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Spastic dystonia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.21 |
|
|
|
|
|
|
|
|
|
|
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 48028-5 |
SERPINE1 gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
SERPINE1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48028-5 |
|
Molgen |
|
|
Both |
|
|
|
0 |
SERPINE1 gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Endothelial plasminogen activator inhibitor; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PAI; PAI 1; PAI1; PAI-1; PCR; PLANH1; Point in time; Random; SERBP; Serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1; Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.73 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. |
0 |
| 48029-3 |
PKLR gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
PKLR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48029-3 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PKLR gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; PK1; PKL; PKR; PKRL; Point in time; Pyruvate kinase 1 gene; Pyruvate kinase isozymes R/L gene; pyruvate kinase, liver and RBC; Pyruvate kinase, liver and RBC gene; Random; Red cell/liver pyruvate kinase gene; RPK; R-type/L-type pyruvate kinase gene; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.63 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. |
0 |
| 4803-3 |
HLA-B77(15) |
PrThr |
Bld/Tiss |
Pt |
Ord |
|
|
ACTIVE |
HLA-B77(15) [Presence] |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
HLA |
|
4803-3 |
|
|
|
|
Observation |
|
|
|
0 |
HLA-B77(15) Ql |
|
|
|
|
|
Blood; Genetics; Heredity; Heritable; HLA ANTIGEN; Human Leukocyte Antigen; Inherited; Ordinal; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
1 |
|
|
|
|
|
|
|
|
|
|
This test is commonly performed on cells found in saliva and buccal swabs as well as blood specimens. Changed specimen from 'Bld' to 'Bld/Tiss' to represent both specimen types.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 48030-1 |
RHCE gene allele Ee |
Geno |
Amnio fld |
Pt |
Nom |
Molgen |
|
ACTIVE |
RHCE gene allele Ee [Genotype] in Amniotic fluid by Molecular genetics method Nominal |
|
NAM |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48030-1 |
|
Molgen |
|
|
Both |
|
|
|
0 |
RHCE allele Ee Geno Amn |
|
|
|
N |
|
AF; Amn; Amn fl; Amnio; Amniotic flu; Amniotic fluid; CD240CE; Genetics; Gyn; Gynecology; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Nominal; OB; ObGyn; Obstetrics; PCR; Point in time; Random; RH; Rh blood group gene, CcEe antigens; Rh blood group, CcEe antigens; RH30A; Rh4; RHC; RHCE allele; RHCE allele Ee; RHE; Rhesus blood group gene, CcEe antigens; RhIVb(J); RHIXB; RHPI; RhVI; RhVIII |
2.68 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Release 2.68: COMPONENT: Updated to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. E/e, e/e, E/E.), which was the original intent for this term.; Previous Releases: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. |
0 |
| 48031-9 |
SCA10 gene.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
SCA10 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
48031-9 |
|
Molgen |
|
|
Both |
|
|
|
0 |
SCA10 gene CAG Rpt Bld/T Ql |
|
|
|
N |
|
Blood; E46L; Genetics; Heredity; Heritable; HUMEEP; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA10; SCA10 gene CAG Rpt; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Changed Property from Arb (Arbitrary) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 48032-7 |
THRB gene.p.Ala317Thr |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
THRB gene p.Ala317Thr [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
48032-7 |
|
Molgen |
|
|
Both |
|
|
|
0 |
THRB p.A317T Bld/T Ql |
|
|
|
N |
|
Blood; C-ERBA-2; C-ERBA-BETA; ERBA2; ERBA-BETA; Genetics; GRTH; Heredity; Heritable; Inherited; MGC126109; MGC126110; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; NR1A2; Ordinal; P prime; PCR; Point in time; PR; PRTH; QL; Qual; Qualitative; Random; Screen; THR1; THRB p.A317T; THRB1; THRB2; Thyroid hormone receptor beta-1; Thyroid hormone receptor beta-2; thyroid hormone receptor, beta; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.21 |
|
|
|
|
|
|
|
|
|
|
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. |
0 |
