35362-3 |
Triglyceride.in chylomicrons |
PrThr |
Ser/Plas |
Pt |
Ord |
|
|
ACTIVE |
Triglyceride in Chylomicrons [Presence] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
|
Detected;Not detected |
|
|
|
|
|
CHEM |
|
35362-3 |
|
|
|
|
Both |
|
|
|
0 |
Trig in Chylo SerPl Ql |
|
|
|
N |
|
Cardio; Cardiology; Chemistry; Chylomicron; Heart Disease; Ordinal; Pl; Plasma; Plsm; Point in time; PR; QL; Qual; Qualitative; Random; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Tg; Trig; Trig in Chylo; Trigly; Triglycerides; Triglycrides; ULDL; Ultra low density lipoproteins |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35363-1 |
Triglyceride.in chylomicrons |
MCnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Triglyceride in Chylomicrons [Mass/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
mg/dL |
|
|
|
|
|
|
CHEM |
|
35363-1 |
|
|
|
|
Both |
|
|
|
0 |
Trig in Chylo SerPl-mCnc |
|
|
|
N |
|
Cardio; Cardiology; Chemistry; Chylomicron; Heart Disease; Level; Mass concentration; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Tg; Trig; Trig in Chylo; Trigly; Triglycerides; Triglycrides; ULDL; Ultra low density lipoproteins |
2.73 |
2.13 |
|
|
|
|
|
|
|
mg/dL |
|
|
|
0 |
35364-9 |
Triacylglycerol lipase^1st specimen post dose sincalide |
CCnc |
Body fld |
Pt |
Qn |
|
|
ACTIVE |
Lipase [Enzymatic activity/volume] in Body fluid --1st specimen post Sincalide |
|
MIN |
DefinitionDescription |
|
|
arb U/L |
|
|
|
|
|
|
CHAL |
|
35364-9 |
|
|
|
|
Observation |
|
|
|
0 |
Lipase sp1 p sincalide Fld-cCnc |
|
|
|
N |
|
Acute specimen; After; B/F; BF; bod; Bodies; Body fluid; Body fluid, unsp; Catalytic Concentration; CHEMISTRY.CHALLENGE TESTING; First; Fl; Fld; FLU; Fluid; Kinevac; LIPA; Lipase; LPS; p dose; Pancreatic lipase; Point in time; Pre immunization; PST; QNT; Quan; Quant; Quantitative; Random; sp1; sp1 p sincalide; Spec; Steapsin; Tributyrase; Tributyrinase |
2.68 |
2.13 |
|
|
|
|
|
|
|
U/L |
|
|
|
0 |
35365-6 |
Vitamin D+Metabolites |
MCnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Vitamin D+Metabolites [Mass/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
ng/mL |
|
|
|
|
|
|
CHEM |
|
35365-6 |
|
|
|
|
Both |
|
|
|
0 |
Vit D+metab SerPl-mCnc |
|
|
|
N |
|
Chemistry; Dextro; Level; Mass concentration; Metabolite; Metb; Osteoporosis; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; Rickets; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Total Vitamin D; UniversalLabOrders; Vit D+metab; Vitamin D deficiency |
2.73 |
2.13 |
|
|
|
|
|
|
|
ng/mL |
|
|
|
0 |
35366-4 |
SCA2 gene allele 2.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
SCA2 gene allele 2 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35366-4 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
SCA2 allele2 CAG Rpt Bld/T Ql |
|
|
|
N |
|
ASL13; Ataxia-2; Ataxin 2; ATX2; ATXN2; Blood; Genetics; Heredity; Heritable; II; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Olivopontocerebellar ataxia 2; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA; SCA2; SCA2 allele2 CAG Rpt; Screen; Spinocerebellar ataxia; Tissue; Tissue, unspecified; TNRC13; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35367-2 |
SCA2 gene allele 1.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
SCA2 gene allele 1 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35367-2 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
SCA2 allele1 CAG Rpt Bld/T Ql |
|
|
|
N |
|
ASL13; Ataxia-2; Ataxin 2; ATX2; ATXN2; Blood; Genetics; Heredity; Heritable; i; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Olivopontocerebellar ataxia 2; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA; SCA2; SCA2 allele1 CAG Rpt; Screen; Spinocerebellar ataxia; Tissue; Tissue, unspecified; TNRC13; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35368-0 |
SCA1 gene allele 2.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
SCA1 gene allele 2 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35368-0 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
SCA1 allele2 CAG Rpt Bld/T Ql |
|
|
|
N |
|
Ataxia-1; Ataxin 1; ATX1; ATXN1; Blood; caspase 3, apoptosis-related cysteine peptidase; CPP32; CPP32B; D6S504E; Genetics; Heredity; Heritable; II; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Olivopontocerebellar ataxia 1; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA; SCA-1; SCA1 allele2 CAG Rpt; Screen; Spinocerebellar ataxia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35369-8 |
SCA1 gene allele 1.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
SCA1 gene allele 1 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35369-8 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
SCA1 allele1 CAG Rpt Bld/T Ql |
|
|
|
N |
|
Ataxia-1; Ataxin 1; ATX1; ATXN1; Blood; caspase 3, apoptosis-related cysteine peptidase; CPP32; CPP32B; D6S504E; Genetics; Heredity; Heritable; i; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Olivopontocerebellar ataxia 1; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA; SCA-1; SCA1 allele1 CAG Rpt; Screen; Spinocerebellar ataxia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
3537-8 |
Nordiazepam |
MCnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Nordiazepam [Mass/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
mcg/dL; mcg/mL; ng/mL |
|
|
|
|
|
|
DRUG/TOX |
|
3537-8 |
|
|
|
|
Both |
|
|
|
0 |
Nordiazepam SerPl-mCnc |
|
|
|
Y |
|
Calmday; Chlordiazepoxide metabolite; Desmethyldiazepam; Diazepam metabolite; Dimethyldiazepam; DRUG/TOXICOLOGY; Drugs; Level; Madar; Mass concentration; n-dimethyldiazepam; Nordaz; Nordazepam; Nordiaze; Pl; Plasma; Plsm; Point in time; Praxadium; Prazepam metabolite; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Stilny; Tranxilium N; Vegesan |
2.73 |
1 |
|
|
|
|
|
|
|
ng/mL |
|
|
|
0 |
35370-6 |
GBA gene.g.S84GG |
Arb |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
DEPRECATED |
Deprecated GBA gene.g.S84GG [Presence] in Blood or Tissue by Molecular genetics method |
|
DEL |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
35370-6 |
|
Molgen |
|
|
Both |
|
|
|
0 |
Deprecated GBA g.S84GG Bld/T Ql |
|
|
|
N |
|
Arbitrary; Beta glucosidase gene; Blood; Gaucher disease; GBA g.S84GG; GBA1; GBA1 (LL); GC (SP); GCB; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.4 |
2.13 |
|
|
|
AssociatedObservations |
EXTERNAL_COPYRIGHT_LINK |
HL7_ATTACHMENT_STRUCTURE |
CONSUMER_NAME |
EXAMPLE_UCUM_UNITS |
STATUS_REASON |
STATUS_TEXT |
CHANGE_REASON_PUBLIC |
COMMON_TEST_RANK |
COMMON_ORDER_RANK |
35371-4 |
GBA gene.g.N370S |
Arb |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
DEPRECATED |
Deprecated GBA gene.g.N370S [Presence] in Blood or Tissue by Molecular genetics method |
|
DEL |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
35371-4 |
|
Molgen |
|
|
Both |
|
|
|
0 |
Deprecated GBA g.N370S Bld/T Ql |
|
|
|
N |
|
Arbitrary; Beta glucosidase gene; Blood; Gaucher disease; GBA g.N370S; GBA1; GBA1 (LL); GC (SP); GCB; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.4 |
2.13 |
|
|
|
AssociatedObservations |
EXTERNAL_COPYRIGHT_LINK |
HL7_ATTACHMENT_STRUCTURE |
CONSUMER_NAME |
EXAMPLE_UCUM_UNITS |
STATUS_REASON |
STATUS_TEXT |
CHANGE_REASON_PUBLIC |
COMMON_TEST_RANK |
COMMON_ORDER_RANK |
35372-2 |
GBA gene.p.Leu444Pro |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
GBA gene p.Leu444Pro [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
35372-2 |
|
Molgen |
|
|
Both |
|
|
|
0 |
GBA p.L444P Bld/T Ql |
|
|
|
N |
|
Beta glucosidase gene; Blood; Gaucher disease; GBA p.L444P; GBA1; GBA1 (LL); GC (SP); GCB; Genetics; GLUC; GLUC (LL); Glucocerebrosidase gene; glucosidase, beta, acid; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; P prime; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35373-0 |
Platelet aggregation.XXX induced |
RelACnc |
PRP^Donor |
Pt |
Qn |
|
|
ACTIVE |
Platelet aggregation XXX induced in Platelet rich plasma from Donor |
|
MAJ |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
COAG |
|
35373-0 |
|
|
|
|
Observation |
|
|
|
0 |
PA XXX PRP Donr |
|
|
|
N |
|
Agg; Aggr; COAGULATION; Donr; Hematology; Heme; PA; PA XXX; Pl; Platelet rich plasma; Platelets; Platelt; Plt; Point in time; QNT; Quan; Quant; Quantitative; Random; RlACnc; Thrombocyte; Thrombocytes |
2.54 |
2.13 |
|
|
|
|
|
|
|
|
|
|
Property changed from ThrSCnc to better fit the procedure employed. |
0 |
35374-8 |
DMPK gene allele 2.CTG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
DMPK gene allele 2 CTG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35374-8 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
DMPK allele2 CTG Rpt Bld/T Ql |
|
|
|
N |
|
Blood; DM; DM1; DM1PK; DMK; DMPK allele2; DMPK allele2 CTG Rpt; dystrophia myotonica-protein kinase; Dystrophia myotonica-protein kinase gene; Genetics; Heredity; Heritable; II; Inherited; MDPK; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; MT-PK; Myotonic dystrophy 1; Myotonin-protein kinase gene; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.64 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35375-5 |
DMPK gene allele 1.CTG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
DMPK gene allele 1 CTG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35375-5 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
DMPK allele1 CTG Rpt Bld/T Ql |
|
|
|
N |
|
Blood; DM; DM1; DM1PK; DMK; DMPK allele1; DMPK allele1 CTG Rpt; dystrophia myotonica-protein kinase; Dystrophia myotonica-protein kinase gene; Genetics; Heredity; Heritable; i; Inherited; MDPK; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; MT-PK; Myotonic dystrophy 1; Myotonin-protein kinase gene; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; Screen; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.64 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35376-3 |
MJD gene allele 2.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
MJD gene allele 2 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35376-3 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
MJD allele2 CAG Rpt Bld/T Ql |
|
|
|
N |
|
AT3; Ataxia-3; Ataxin 3; ATX3; Blood; Genetics; Heredity; Heritable; II; Inherited; JOS; Machado-Joseph disease; MJD; MJD allele2 CAG Rpt; MJD1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Olivopontocerebellar ataxia 3; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA3; SCA3 gene; Screen; Spinocerebellar ataxia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35377-1 |
MJD gene allele 1.CAG repeats |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
MJD gene allele 1 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.NUCREPEAT |
|
35377-1 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
MJD allele1 CAG Rpt Bld/T Ql |
|
|
|
N |
|
AT3; Ataxia-3; Ataxin 3; ATX3; Blood; Genetics; Heredity; Heritable; i; Inherited; JOS; Machado-Joseph disease; MJD; MJD allele1 CAG Rpt; MJD1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.NUCREPEAT; Olivopontocerebellar ataxia 3; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Repeat; SCA3; SCA3 gene; Screen; Spinocerebellar ataxia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
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 |
35378-9 |
HNPCC genes mutations tested for |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
HNPCC genes mutations tested for in Blood or Tissue by Molecular genetics method Nominal |
|
NAM |
DefinitionDescription |
|
|
|
RESULT COMMENT: IMMUNOHISTOCHEMICAL STAINING (IHC) IS USED TO DETERMINE THE PRESENCE OR ABSENCE OF PROTEIN EXPRESSION FOR HMLH1, HMSH2, AND HMSH6. LYMPHOCYTES AND Normal EPITHELIUM EXHIBIT STRONG NUCLEAR STAINING AND SERVE AS Positive INTERNAL CONTROLS FOR STAINING OF THESE PROTIENS. A PCR BASED ASSAY IS USED TO TEST FOR TUMOR MICROSATELLITE INSTABILITY (MSI) WITH THE USE OF 10 MARKERS: 4 MONONUCLEOTIDE REPEATS (BAT25, BAT26, BAT40, BAT34C) AND 6 DINUCLEOTIDE REPEATS (D17S250, D5S346, D18S55, D10S197, MYCL, AND ACTC). |
|
|
|
|
|
MOLPATH.MUT |
|
35378-9 |
|
Molgen |
|
|
Observation |
|
|
|
0 |
HNPCC genes Mut Tested Bld/T |
|
|
|
N |
|
Blood; COCA2; FCC2; Genetics; Hereditary Nonpolyposis Colorectal Cancer; Heredity; Heritable; hMLH1; HNPCC; HNPCC2; Identity or presence; Inherited; Lynch syndrome; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Tested; Mutation; mutL homolog 1; Muts; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.54 |
2.13 |
|
|
|
|
|
|
|
|
|
|
Changed "gene" to "genes" in Component since multiple genes to clarify that "HNPCC" is the disease acrynoym and not an approved HGNC gene name. This change also clarifies that mutations in multiple genes are being analyzed. |
0 |
35379-7 |
HNPCC genes targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
HNPCC genes mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
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MIN |
DefinitionDescription |
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RESULT COMMENT: THE RECTOSIGMOID COLON ADNOCARCINOMA DEMONSTRATED THE PRESENCE OF Normal HMLH1, HMSH2, AND HMSH6 PROTIEN EXPRESSION AND MSI TESTING DEMONSTRATED A STABLE PATTER IN 8 OF 8 INFORMATIVE MARKERS (MSS). |
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|
|
|
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MOLPATH.MUT |
|
35379-7 |
|
Molgen |
|
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Both |
|
|
|
0 |
HNPCC genes Mut Anl Bld/T |
|
|
|
N |
|
Blood; COCA2; FCC2; Genetics; Hereditary Nonpolyposis Colorectal Cancer; Heredity; Heritable; hMLH1; HNPCC; HNPCC2; Identity or presence; Inherited; Lynch syndrome; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; mutL homolog 1; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.73 |
2.13 |
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|
|
|
|
|
|
Changed "gene" to "genes" in Component since multiple genes to clarify that "HNPCC" is the disease acrynoym and not an approved HGNC gene name. This change also clarifies that multiple genes are being analyzed. 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 |
3538-6 |
Dextromethorphan |
PrThr |
Ser/Plas |
Pt |
Ord |
|
|
ACTIVE |
Dextromethorphan [Presence] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
3538-6 |
|
|
|
|
Both |
|
|
|
0 |
D-methorphan SerPl Ql |
|
|
|
|
|
Dextro-methorphan; D-methorphan; DRUG/TOXICOLOGY; Drugs; Ordinal; Pl; Plasma; Plsm; Point in time; PR; QL; Qual; Qualitative; Random; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR |
2.56 |
1 |
|
|
|
|
|
|
|
|
|
|
The Property has been changed from ACnc 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 |
35380-5 |
HEXA gene.c.IVS7+1G>A |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
HEXA gene c.IVS7+1G>A [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
35380-5 |
|
Molgen |
|
|
Both |
|
|
|
0 |
HEXA c.IVS7+1G>A Bld/T Ql |
|
|
|
N |
|
beta-N-acetylhexosaminidase gene; Blood; Genetics; GIVS7C; GM2-gangliosidosis; Heredity; Heritable; HEXA c.IVS7+1G>A; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) gene; Inherited; inversion 7; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; N-acetyl-beta-glucosaminidase gene; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tay-Sachs disease; Tissue; Tissue, unspecified; TSD; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
Added method; Changed Component part from g.GIVS7A to c.IVS7+1G>A since variant is described at coding level and to harmonize with HGVS nomenclature guidelines.; 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 |
35381-3 |
HEXA gene.c.IVS12+1G>C |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
HEXA gene c.IVS12+1G>C [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
35381-3 |
|
Molgen |
|
|
Both |
|
|
|
0 |
HEXA .c.IVS12+1G>C Bld/T Ql |
|
|
|
N |
|
beta-N-acetylhexosaminidase gene; Blood; Genetics; GIVS12C; GM2-gangliosidosis; Heredity; Heritable; HEXA .c.IVS12+1G>C; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) gene; Inherited; inversion 12; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; N-acetyl-beta-glucosaminidase gene; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; Tay-Sachs disease; Tissue; Tissue, unspecified; TSD; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
Changed Component part from g.GIVS12C to c.IVS12+1G>C since variant is described at coding level and to harmonize with HGVS nomenclature guidelines.; 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 |
35382-1 |
HEXA gene.p.Gly269Ser |
PrThr |
Bld/Tiss |
Pt |
Ord |
Molgen |
|
ACTIVE |
HEXA gene p.Gly269Ser [Presence] in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
35382-1 |
|
Molgen |
|
|
Both |
|
|
|
0 |
HEXA p.G269S Bld/T Ql |
|
|
|
N |
|
beta-N-acetylhexosaminidase gene; Blood; Genetics; Gly269Ser; GM2-gangliosidosis; Heredity; Heritable; HEXA p.G269S; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) gene; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; N-acetyl-beta-glucosaminidase gene; Ordinal; P prime; PCR; Point in time; PR; QL; Qual; Qualitative; Random; rs121907954; Screen; Tay-Sachs disease; Tissue; Tissue, unspecified; TSD; WB; Whole blood; Whole blood or Tissue |
2.56 |
2.13 |
|
|
|
|
|
|
|
|
|
|
Changed Component part from g.G269S to p.G269S since variant is at described at protein level vs. genomic level. 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 |
35383-9 |
Galactomannan Ag |
ACnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Galactomannan Ag [Units/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
Index |
Indes = 0.16 |
|
|
|
|
|
MICRO |
|
35383-9 |
|
|
|
|
Both |
|
|
|
0 |
Galactomannan Ag SerPl-aCnc |
|
|
|
N |
|
Antigen; Antigens; Arbitrary concentration; Aspergillus galactomannan; GM; ID; Infectious Disease; InfectiousDisease; Microbiology; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; UniversalLabOrders |
2.73 |
2.13 |
|
|
|
|
|
|
|
{Index_val} |
|
|
|
0 |
35384-7 |
Estradiol |
MCnc |
Ser/Plas |
Pt |
Qn |
High sensitivity |
|
ACTIVE |
Estradiol (E2) [Mass/volume] in Serum or Plasma by High sensitivity method |
|
MIN |
DefinitionDescription |
|
|
pg/mL |
|
|
|
|
|
|
CHEM |
|
35384-7 |
|
High sensitivity |
|
|
Both |
|
|
|
0 |
Estradiol SerPl HS-mCnc |
|
|
|
N |
|
17-beta estradiol; Chemistry; E2; Gyn; Gynecology; HS; Level; Mass concentration; OB; ObGyn; Obstetrics; Oestradiol; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; UniversalLabOrders |
2.73 |
2.13 |
|
|
|
|
|
|
|
pg/mL |
|
|
|
0 |