| 4042-8 |
Sulfonamide |
MCnc |
Urine |
Pt |
Qn |
|
|
ACTIVE |
Sulfonamide [Mass/volume] in Urine |
|
MIN |
DefinitionDescription |
|
|
ug/mL |
|
|
|
|
|
|
DRUG/TOX |
|
4042-8 |
|
|
|
|
Both |
|
|
|
0 |
Sulfonamide Ur-mCnc |
|
|
|
Y |
|
C75; DRUG/TOXICOLOGY; Drugs; Level; Mass concentration; Point in time; QNT; Quan; Quant; Quantitative; Random; Sulf; Sulfa; Sulfas; Sulfonamides; UA; UR; Urn |
2.42 |
1 |
|
|
|
|
|
|
|
ug/mL |
|
|
|
0 |
| 40420-2 |
Amphetamine+Methamphetamine |
PrThr |
XXX |
Pt |
Ord |
|
|
ACTIVE |
Amphetamine+Methamphetamine [Presence] in Specimen |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
40420-2 |
|
|
|
|
Both |
|
|
|
0 |
Amphet+Methamphet Spec Ql |
|
|
|
N |
|
Addiction; Amph; Amphet; Amphet+Methamphet; Amphetam; Amphetamines; Ampht; Desoxyn; DRUG/TOXICOLOGY; Drugs; Drugs of abuse; Illicit; Methamphet; Misc; Miscellaneous; Ordinal; Other; Point in time; PotentialForAbuse; PR; QL; Qual; Qualitative; Random; Screen; Spec; Speed; To be specified in another part of the message; Unspecified |
2.73 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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 |
| 40421-0 |
Amphetamine+Methamphetamine |
PrThr |
Ser/Plas |
Pt |
Ord |
|
|
ACTIVE |
Amphetamine+Methamphetamine [Presence] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
40421-0 |
|
|
|
|
Both |
|
|
|
0 |
Amphet+Methamphet SerPl Ql |
|
|
|
N |
|
Addiction; Amph; Amphet; Amphet+Methamphet; Amphetam; Amphetamines; Ampht; Desoxyn; DRUG/TOXICOLOGY; Drugs; Drugs of abuse; Illicit; Methamphet; Ordinal; Pl; Plasma; Plsm; Point in time; PotentialForAbuse; PR; QL; Qual; Qualitative; Random; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; Speed; SR |
2.73 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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 |
| 40422-8 |
Methotrimeprazine |
PrThr |
Urine |
Pt |
Ord |
|
|
ACTIVE |
Methotrimeprazine [Presence] in Urine |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
40422-8 |
|
|
|
|
Both |
|
|
|
0 |
Methotrimeprazine Ur Ql |
|
|
|
N |
|
DRUG/TOXICOLOGY; Drugs; Hirnamin; Lepurin; Lerium; Levamin; Levohalte; Levomazine; Levomeprazine; Levomeproma; Levomepromazin; Levomepromazina; Levomepromazine; Levomezine; Levonormal; Levopromazine; Levoprome; Levotomin; Levozan; Levozin; Methotrimeprazine; Milezin; Minozinan; Neozine; Neuractil; Neurocil; Neurozil; Novo-Meprazine; Nozinan; Ordinal; Point in time; PR; Procrazine; QL; Qual; Qualitative; Random; Ronexine; Screen; Sinogan; Sofmin; Specia 246; Tisercin; Tisercine; Tisercinetta; Tisercinettes; UA; UR; Urn; Veractil |
2.56 |
2.15 |
|
|
|
|
|
|
|
|
|
|
Changed component from Levomepromazine to to Methotrimeprazine to reflect the current International Nonproprietary Name (INN) which is also listed as the USAN and the BAN name at the present. There may be some countries that still use Levomeprazine which we made a synonym.; 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 |
| 40423-6 |
Methotrimeprazine |
PrThr |
XXX |
Pt |
Ord |
|
|
ACTIVE |
Methotrimeprazine [Presence] in Specimen |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
40423-6 |
|
|
|
|
Both |
|
|
|
0 |
Methotrimeprazine Spec Ql |
|
|
|
N |
|
DRUG/TOXICOLOGY; Drugs; Hirnamin; Lepurin; Lerium; Levamin; Levohalte; Levomazine; Levomeprazine; Levomeproma; Levomepromazin; Levomepromazina; Levomepromazine; Levomezine; Levonormal; Levopromazine; Levoprome; Levotomin; Levozan; Levozin; Methotrimeprazine; Milezin; Minozinan; Misc; Miscellaneous; Neozine; Neuractil; Neurocil; Neurozil; Novo-Meprazine; Nozinan; Ordinal; Other; Point in time; PR; Procrazine; QL; Qual; Qualitative; Random; Ronexine; Screen; Sinogan; Sofmin; Spec; Specia 246; Tisercin; Tisercine; Tisercinetta; Tisercinettes; To be specified in another part of the message; Unspecified; Veractil |
2.69 |
2.15 |
|
|
|
|
|
|
|
|
|
|
Changed component from Levomepromazine to to Methotrimeprazine to reflect the current International Nonproprietary Name (INN) which is also listed as the USAN and the BAN name at the present. There may be some countries that still use Levomeprazine which we made a synonym.; 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 |
| 40424-4 |
Methotrimeprazine |
PrThr |
Ser/Plas |
Pt |
Ord |
|
|
ACTIVE |
Methotrimeprazine [Presence] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
40424-4 |
|
|
|
|
Both |
|
|
|
0 |
Methotrimeprazine SerPl Ql |
|
|
|
N |
|
DRUG/TOXICOLOGY; Drugs; Hirnamin; Lepurin; Lerium; Levamin; Levohalte; Levomazine; Levomeprazine; Levomeproma; Levomepromazin; Levomepromazina; Levomepromazine; Levomezine; Levonormal; Levopromazine; Levoprome; Levotomin; Levozan; Levozin; Methotrimeprazine; Milezin; Minozinan; Neozine; Neuractil; Neurocil; Neurozil; Novo-Meprazine; Nozinan; Ordinal; Pl; Plasma; Plsm; Point in time; PR; Procrazine; QL; Qual; Qualitative; Random; Ronexine; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; Sinogan; Sofmin; Specia 246; SR; Tisercin; Tisercine; Tisercinetta; Tisercinettes; Veractil |
2.56 |
2.15 |
|
|
|
|
|
|
|
|
|
|
Changed component from Levomepromazine to to Methotrimeprazine to reflect the current International Nonproprietary Name (INN) which is also listed as the USAN and the BAN name at the present. There may be some countries that still use Levomeprazine which we made a synonym.; 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 |
| 40425-1 |
CYP2D6 gene allele |
Geno |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
HETEROZYGOUS CYO2D6*1/*6 THIS INDIVIDUAL IS HETEROZYGOUS FOR THE CYP2D6*6 POLYMORPHISMS. THIS RESULTS IN HAVING 1 COPY OF THE GENE ENCODING ENZYME WITH Normal ACTIVITY AND 1 COPY THAT ENCODES FOR INACTIVE ENZYME. THIS GENOTYPE IS ASSOCIATED WITH AN INTERMEDIATE METABOLIZER PHENOTYPE. THIS PATIENT WILL HAVE REDUCED ENZYME ACTIVITY AS COMPARED TO INDIVIDUALS WITH THE Normal GENOTYPE. SOME CAUTION SHOULD BE EXERCISED WHEN TREATING WITH DRIUGS METABOLIZED BY CYP2D6. |
|
|
|
|
|
MOLPATH.PHARMG |
|
40425-1 |
|
Molgen |
|
|
Both |
|
|
|
0 |
CYP2D6 allele Geno Bld/T |
|
|
|
N |
|
Blood; CPD6; CYP2D; CYP2D@; CYP2D6 allele; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; CYP2DL1; CYPIID6; Cytochrome p450; cytochrome P450, family 2, subfamily D, polypeptide 6; Debrisoquine hydroxylation gene; Genetics; Heredity; Heritable; HGNC:2629; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.PHARMG; Nominal; P450C2D; P450DB1; P450-DB1; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.73 |
2.15 |
|
|
|
|
|
|
|
|
|
|
Release 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2D6*1/*1), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; Previous Releases: Added specimen of saliva since Cytochrome P450 gene testing is commonly done on saliva as well as blood specimens and results are theoretically the same for both.; 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 |
| 40426-9 |
FGD1 gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
FGD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
RESULTS: Normal SEQUENCING ANALYSIS. INTERPRETATION: NO CHANGES IDENTIFIED IN THE FGD1 GENE. COMMENTS: USING DNA ISOLATED FROM PERIPHERAL BLOOD, FLUORESCENT SEQUENCING OF ALL 18 FGD1 EXONS WAS PERFORMED IN ORDER TO DETECT POSSIBLE ALTERATIONS. MUTATIONS WITHIN THE FGD1 GENE ARE ASSOCIATED WITH AARSKOG SYNDROME (PASTERIS NG, CADLE A, LOGIE LJ, ET AL.; ISOLATION AND CHARACTERIZATION OF THE FACIOGENITAL DYSPLASIA (AARSKOG-SCOTT SYNDROME) GENE: A PUTATIVE RHO/RAC GUANINE NUCLEOTIDE EXCHANGE FACTOR. CELL 79:669, 1994). MOLECULAR TESTS DESIGNED TO DIAGNOSE THIS DISORDER HAVE ONLY RECENTLY BEEN DEVELOPED. AS WITH ANY TESTING, THERE IS A POSSIBILITY OF FALSE Positive OR FALSE Negative RESULTS. HOWEVER, QUALITY ASSURANCE AND QUALITY CONTROL PROGRAMS ARE IN PLACE IN OUR LABORATORY AND ALL ATTEMPTS ARE MADE TO ENSURE PROPER DIAGNOSIS. PLEASE CONTACT US IF WE CAN PROVIDE ADDITIONAL INFORMATION REGARDING THE MOLECULAR ANALYSIS. |
|
|
|
|
|
MOLPATH.MUT |
|
40426-9 |
|
Molgen |
|
|
Both |
|
|
|
0 |
FGD1 gene Mut Anl Bld/T |
|
|
|
N |
|
AAS; Blood; Document; Faciogenital dysplasia (Aarskog-Scott syndrome); FGDY; Finding; Findings; FYVE, RhoGEF and PH domain containing 1; FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia); Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRXS16; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; ZFYVE3 |
2.66 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. |
0 |
| 40427-7 |
FGF23 gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
FGF23 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
MUTATION ANALYSIS: ANALYSIS PROCEEDED ON GENOMIC DNA OBTAINED FROM THE SUBMITTED SAMPLE. COMPLETE SEQUENCE OF THE 3 EXONS OF THE FGF3 GENE, ASSOCIATED WITH AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS, WAS OBTAINED AND ANALYZED, ALONG WITH INTRON/EXON BOUNDARIES. RESULT: Negative NO SEQUENCE CHANGES IN THE PATIENT DNA SAMPLE WAS IDENTIFIED WHEN COMPARED TO THE Normal SEQUENCE OF THE FGF3 GENE. INTERPRETATION: NO MUTATION ASSOCIATED WITH AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS WAS IDENTIFIED IN THE ANALYSIS OF THE FGF3 GENE. RECOMMENDED FURTHER TESTING: MUTATION IN THE FGF3 GENE IS RESPONSIBLE FOR A VERY SMALL MINORITY OF PATIENTS WITH HYPOPHOSPHATEMIC RICKETS. MUTATION IN THE X-LINKED DOMINANT GENE, PHEX, IS RESPONSIBLE FOR VAST MAJORITY OF CASES IN WHICH A GENETIC CAUSE CAN BE IDENTIFIED, AND MOST EXPERTS BELIEVE THAT THERE IS LITTLE IF ANY CLINICAL DIFFERENCE BETWEEN THE X-LINKED AND AUTOSOMAL DOMINANT CASES. UNLESS THERE IS MALE TO MALE TRANSMISSION OF THE PHENOTYPE IN THE FAMILY OF THIS INDIVIDUAL, TESTING OF THE PHEX GENE IS RECOMMENDED. |
|
|
|
|
|
MOLPATH.MUT |
|
40427-7 |
|
Molgen |
|
|
Both |
|
|
|
0 |
FGF23 gene Mut Anl Bld/T |
|
|
|
N |
|
ADHR; Blood; Document; FGF-23; FGFN; Fibroblast growth factor 23; Finding; Findings; Genetics; Heredity; Heritable; HPDR2; HYPF; Hypophosphatemia vitamin D-resistant rickets-2 (autosomal dominant); Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; PHPTC; Point in time; Random; Tissue; Tissue, unspecified; Tumor-derived hypophosphatemia inducing factor; WB; Whole blood; Whole blood or Tissue |
2.66 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. |
0 |
| 40428-5 |
NIPBL gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
NIPBL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
RESULT: Normal FISH RESULT ISCN: ISH5P13 (NIPBLX2) INTERPRETATION: FLUORESCENCE IN SITU HYBRIDIZATION (FISH) USING A PROBE TO THE NIPBL GENE (CTD-2249G23) SHOWED A Normal HYBRIDIZATION PATTERN ON EACH CHROMOSOME 5. THE 5QTER PROBE (RP11-59K21) WAS USED AS A Normal CONTROL AND IT ALSO SHOWED A Normal HYBRIDIZATION PATTERN. THUS, NO DELETION OF THE NIPBL LOCUS WAS IDENTIFIED IN THIS PATIENT. THIS Normal RESULT DOES NOT EXCLUDE THE DIAGNOSIS OF CORNELIA DE LANGE SYNDROME DUE TO OTHER CAUSES SUCH AS MUTATIONS OR SMALL REARRANGEMENTS IN THE NIPBL GENE. FISH ANALYSIS SUMMARY PROBES USED: CTD-2249G23 NUMBER OF CELLS ANALYZED: 20 TYPE OF ANALYSIS: METAPHASE CONTROL PROBE: RP11-59K21 (5QTER) |
|
|
|
|
|
MOLPATH.MUT |
|
40428-5 |
|
Molgen |
|
|
Both |
|
|
|
0 |
NIPBL gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; CDLS; CDLS1; DKFZp434L1319; Document; Finding; Findings; FLJ11203; FLJ12597; FLJ13354; FLJ13648; Genetics; Heredity; Heritable; IDN3; IDN3-B; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nipped-B homolog (Drosophila); Nipped-B-like; PCR; Point in time; Random; Scc2; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.66 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. |
0 |
| 40429-3 |
NOD2 gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
NOD2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
TEST RESULT: NOD2/CARD15: NO MUTATIONS DETECTED - HOMOZYGOUS WILD TYPE ANALYSIS RESULTS: MUTATION INVESTIGATED RESULT R702W [C2104T] NO MUTATIONS DETECTED - HOMOZYGOUS WILD TYPE G908R [G2722C] NO MUTATIONS DETECTED - HOMOZYGOUS WILD TYPE 1007FS [3020INSC] NO MUTATIONS DETECTED - HOMOZYGOUS WILD TYPE REFERENCE RANGE: NO MUTATIONS DETECTED - HOMOZYGOUS WILD TYPE FOR ALL. |
|
|
|
|
|
MOLPATH.MUT |
|
40429-3 |
|
Molgen |
|
|
Both |
|
|
|
0 |
NOD2 gene Mut Anl Bld/T |
|
|
|
N |
|
ACUG; Arthrocutaneouveal granulomatosis (Blau syndrome); BLAU; Blau syndrome, granulomatous synovitis with uveitis and cranial neuropathies; Blood; CARD15; Caspase recruitment domain family, member 15; CD; CLR16.3; Crohn disease; Document; Finding; Findings; Genetics; Heredity; Heritable; IBD1; Inflammatory bowel disease 1; Inherited; LRR-containing protein gene; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; NLRC2; NOD2; NOD2B; nucleotide-binding oligomerization domain containing 2; Nucleotide-binding oligomerization domain protein 2 gene; PCR; Point in time; PSORAS1; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. |
0 |
| 4043-6 |
Teicoplanin |
MCnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Teicoplanin [Mass/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
mg/L |
|
|
|
|
|
|
DRUG/TOX |
|
4043-6 |
|
|
|
|
Both |
|
|
|
0 |
Teicoplanin SerPl-mCnc |
|
|
|
Y |
|
DRUG/TOXICOLOGY; Drugs; Level; Mass concentration; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Targocid; Targosid; Teichomycin; Teicomid |
2.42 |
1 |
|
|
|
|
|
|
|
mg/L |
|
|
|
0 |
| 40430-1 |
TH gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
TH gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
REPORT: WE HAVE APPLIED CONFORMATION-SENSITIVE GEL ELECTROPHORESIS (CSGE) ANALYSIS OF THE TYROSINE HYDROXYLASE GENE OF YOUR PATIENT. THIS SHOWED AN Abnormal SHIFT IN EXON 3 ONLY. THE EXON 3 WAS FULLY SEQUENCED INCLUDING THE INTRON-EXON BOUNDARIES. THIS SHOWED THE KNOWN 334G>A(V112M) POLYMORPHISM ON ONE ALLELE. IN SUMMARY, THERE IS NO EVIDENCE FOR A PATHOGENIC MUTATION IN THE TYROSINE HYDROXYLASE GENE. |
|
|
|
|
|
MOLPATH.MUT |
|
40430-1 |
|
Molgen |
|
|
Both |
|
|
|
0 |
TH gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; DYT14; DYT5b; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Thallium; Tissue; Tissue, unspecified; TYH; Tyrosine 3-monooxygenase gene; tyrosine hydroxylase; Tyrosine hydroxylase gene; WB; Whole blood; Whole blood or Tissue |
2.66 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. |
0 |
| 40431-9 |
Osmotic fragility^fresh |
Imp |
RBC^Control |
Pt |
Nom |
|
|
ACTIVE |
Osmotic fragility [Interpretation] of Red Blood Cells from Control--fresh |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
HEM/BC |
|
40431-9 |
|
|
|
|
Observation |
|
|
|
0 |
OF Fresh RBC Cont-Imp |
|
|
|
N |
|
Contrl; Erythrocytes; Frag; Fragil; HEMATOLOGY/CELL COUNTS; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; Nominal; Normal; OF; Osmo; Osmo Frag; Point in time; Random; Red blood cells; Red blood corpusles |
2.73 |
2.15 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 40432-7 |
Osmotic fragility^incubated |
Imp |
RBC^Control |
Pt |
Nom |
|
|
ACTIVE |
Osmotic fragility [Interpretation] of Red Blood Cells from Control--Incubated |
|
MAJ |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
HEM/BC |
|
40432-7 |
|
|
|
|
Observation |
|
|
|
0 |
OF Incubated RBC Cont-Imp |
|
|
|
N |
|
Contrl; Erythrocytes; Frag; Fragil; HEMATOLOGY/CELL COUNTS; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; Nominal; Normal; OF; Osmo; Osmo Frag; Point in time; Random; Red blood cells; Red blood corpusles |
2.15 |
2.15 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 40433-5 |
Sucrose hemolysis |
NFr |
RBC^Control |
Pt |
Qn |
|
|
ACTIVE |
Sucrose hemolysis of Red Blood Cells from Control |
|
MAJ |
DefinitionDescription |
|
|
% |
|
|
|
|
|
|
HEM/BC |
|
40433-5 |
|
|
|
|
Both |
|
|
|
0 |
Sucrose Hemolysis NFr Cont RBC |
|
|
|
N |
|
Contrl; Erythrocytes; Hem; HEMATOLOGY/CELL COUNTS; Normal; Number fraction; Percent; PNH; Point in time; QNT; Quan; Quant; Quantitative; Random; Red blood cells; Red blood corpusles; SLT; Sucro; Sugar water test |
2.38 |
2.15 |
|
|
|
|
|
|
|
% |
|
|
|
0 |
| 40434-3 |
APTX gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
APTX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
APTX: Normal REFERENCE RANGE: Normal COMMENTS: APRATAXIN SEQUENCING VARIANTS ARE CLASSIFIED AS KNOWN RECESSIVE DISEASE ASSOCIATED, PREDICTIVE DISEASE ASSOCIATED, VARIANTS OF UNKNOWN SIGNIFICIANCE , INCONCLUSIVE OR Indeterminate. A FINDING OF TWO KNOWN OR PREDICTED DISEASE ASSOCIATED MUTATIONS IS CONSISTENT WITH A DIAGNOSIS OF ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1. MUTATIONS IN THE APRATAXIN GENE CAUSE ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1, WHICH IS GENERALLY CHARACTERIZED BY EARLY ONSET CEREBELLAR ATAXIA. THE TERM ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1 REFERS TO A DISEASE THAT CAN POTENTIALLY BE CAUSED BY MUTATIONS IN THE APRATAXIN GENE ON BOTH CHROMOSOMES. CLINICAL VARIABILITY OF THE DISEASE IS BROAD. IN ADDITION TO ATAXIA, PATIENTS MAY OR MAY NOT DISPLAY SYMPTOMS WHICH INCLUDE OCULOMOTOR APRAXIA, MENTAL DETERIORATION, HYPOALBUMINEMIA, HYPERCHOLESTEROLEMIA, CHOREIFORM MOVEMENTS, PERIPHERAL NEUROPATHY, AND NERVE DAMAGE. DNA VARIANTS ARE DEVIATIONS FROM THE REFERENCE SEQUENCE OF THE APRATAXIN GENE. SINCE ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1 IS A RECESSIVE DISEASE, MUTATIONS MUST BE FOUND IN BOTH ALLELES OF THE APRATAXIN GENE TO CONFIRM THE PRESENCE OF THE DISEASE. DISEASE CAUSING MUTATIONS CAN BE HOMOZYGOUS OR COMPOUND HETEROZYGOUS. IT IS NOT UNCOMMON TO HAVE MORE THAN TWO TYPES OF DNA SEQUENCE VARIANTS DETECTED IN A GENE. IN ADDITION, THE CLINICAL SIGNIFICIANCE OF INDIVIDUAL VARIANT TYPES AND THEIR COMBINATIONS DIFFERS WIDELY. THE DNA VARIANT TYPES AND ADDITIONAL TERMINOLOGY UTILIZED IN THE REPORT ARE EXPLAINED BELOW. DNA VARIANT OR RESULT TYPES: 1. KNOWN DISEASE-ASSOCIATED MUTATIONS (RECESSIVE) ARE DOCUMENTED IN THE LITERATURE TO BE ASSOCIATED WITH ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1 IN A RECESSIVE MANNER. AN INDIVIDUAL CAN BE HOMOZYGOUS FOR SUCH A MUTATION (THE SASME RECESSIVE MUTATION PRESENT ON BOTH CHROMOSOMES) OR A COMPOUND HETEROZYGOTE (WITH DIFFERENT RECESSIVE MUTATIONS PRESENT ON EACH CHROMOSOME). IN BOTH CASES, THE INDIVIDUAL IS LIKELY TO BE AFFECTED WITH, OR PREDISPOSED TO DEVELOPING ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1. IF ONLY ONE ALLELE HAS A MUTATION, THEN THE INDIVIDUAL IS LIKELY TO BE CARRIER OF AN APRATAXIN MUTATION. 2. PREDICTED DISEASE-ASSOCIATED MUTATIONS ARE EXPECTED TO RESULT IN SIGNIFICANT ALTERATION OF THE STRUCTURE AND FUNCTION OF THE APRATAXIN PROTEIN ENCODED BY THE APRATAXIN GENE. TYPICAL EXAMPLES INCLUDE FRAME SHIFT MUTATIONS, SPLICING MUTATIONS, NONSENSE MUTATIONS, AND DELETIONS OR DUPLICATIONS OF ENTIRE EXONS. CURRENT LITERATURE INDICATES THAT DNA SEQUENCE VARIANTS OF THIS TYPE ARE ASSOCIATED WITH ATAXIA WITH OCULOMOTOR APRAXIA TYPE 1, WHEN PRESENT IN BOTH CHROMOSOMES (I.E. RECESSIVE INHERITANCE). HOWEVER, DUE TO THE ABSENCE OF ESTABLISHED GENOTYPE-PHENOTYPE CORRELATIONS FOR THIS SPECIFIC DNA SEQUENCE VARIANT, THIS RESULT SHOULD BE CAREFULLY RECONCILED WITH THIS INDIVIDUAL'S CLINICAL AND FAMILY HISTORY |
|
|
|
|
|
MOLPATH.MUT |
|
40434-3 |
|
Molgen |
|
|
Both |
|
|
|
0 |
APTX gene Mut Anl Bld/T |
|
|
|
N |
|
AOA; AOA1; aprataxin; Aprataxin gene; Ataxia 1, early onset with hypoalbuminemia; AXA1; Blood; Document; EAOH; EOAHA; FHA-HIT; Finding; Findings; FLJ20157; Genetics; Heredity; Heritable; HGNC:902; Inherited; MGC1072; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.66 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. |
0 |
| 40435-0 |
Fungus |
Prid |
Urine |
Pt |
Nom |
Culture |
|
ACTIVE |
Fungus identified in Urine by Culture |
|
NAM |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
40435-0 |
|
Culture |
|
|
Both |
|
|
|
0 |
Fungus Ur Cult |
|
|
|
N |
|
C&S; Cult; Cultures; Fung; Fungal; Fungi; ID; Identity or presence; Infectious Disease; InfectiousDisease; Microbiology; Nominal; Point in time; Random; UA; UR; Urn |
2.78 |
2.15 |
|
|
|
|
|
|
|
|
|
|
Release 2.78: COMPONENT: Removed "Identified" from the component because it is implied by the Property "Prid"; |
0 |
| 40436-8 |
Parainfluenza virus |
Prid |
XXX |
Pt |
Nom |
Organism specific culture |
|
ACTIVE |
Parainfluenza virus identified in Specimen by Organism specific culture |
|
NAM |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
40436-8 |
|
Organism specific culture |
|
|
Both |
|
|
|
0 |
HPIV Spec Cult |
|
|
|
N |
|
C&S; Cult; Cultures; HPIV; ID; Identity or presence; Infectious Disease; InfectiousDisease; Microbiology; Misc; Miscellaneous; Nominal; Other; Para; Parainflu; Point in time; Random; Spec; To be specified in another part of the message; Unspecified |
2.79 |
2.15 |
|
|
|
|
|
|
|
|
|
|
Release 2.79: COMPONENT: Triggered by the coll w SCT:The understanding is that the word "identified" refers to the property "PRID", its presence in the component is redundant to the property. Therefore it is better to remove "identified" from the component.; |
0 |
| 40437-6 |
HIV 1 p24 Ab |
PrThr |
Ser/Plas |
Pt |
Ord |
IA |
|
ACTIVE |
HIV 1 p24 Ab [Presence] in Serum or Plasma by Immunoassay |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
40437-6 |
|
IA |
|
|
Observation |
|
|
|
0 |
HIV1 p24 Ab SerPl Ql IA |
|
|
|
N |
|
ABS; Aby; AIDS; Antby; Anti; Antibodies; Antibody; Autoantibodies; Autoantibody; EIA; ELFA; ELISA; Enzyme immunoassay; HIV type 1; HIV type I; HIV1; HIV1 p24; Human immunodeficiency virus; i; IAA; ID; Infectious Disease; InfectiousDisease; MEIA; Microbiology; Ordinal; Pl; Plasma; Plsm; Point in time; PR; QL; Qual; Qualitative; Random; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; SUDS |
2.56 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; The EIA method, which was always intended to cover more than just enzyme-linked immunoassay and whose display name for the long common name has always been Immunoassay, was renamed IA in order to eliminate ambiguity about whether the method has a broader meaning than just enzyme-linked immunoassay. Likewise, EIA.rapid was renamed IA.rapid. These changes were approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 40438-4 |
HIV 1 gp41 Ab |
PrThr |
Ser/Plas |
Pt |
Ord |
IA |
|
ACTIVE |
HIV 1 gp41 Ab [Presence] in Serum or Plasma by Immunoassay |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
40438-4 |
|
IA |
|
|
Observation |
|
|
|
0 |
HIV1 gp41 Ab SerPl Ql IA |
|
|
|
N |
|
ABS; Aby; AIDS; Antby; Anti; Antibodies; Antibody; Autoantibodies; Autoantibody; EIA; ELFA; ELISA; Enzyme immunoassay; HIV type 1; HIV type I; HIV1; HIV1 gp41; Human immunodeficiency virus; i; IAA; ID; Infectious Disease; InfectiousDisease; MEIA; Microbiology; Ordinal; Pl; Plasma; Plsm; Point in time; PR; QL; Qual; Qualitative; Random; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; SUDS |
2.56 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; The EIA method, which was always intended to cover more than just enzyme-linked immunoassay and whose display name for the long common name has always been Immunoassay, was renamed IA in order to eliminate ambiguity about whether the method has a broader meaning than just enzyme-linked immunoassay. Likewise, EIA.rapid was renamed IA.rapid. These changes were approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 40439-2 |
HIV 1 gp120+gp160 Ab |
PrThr |
Ser/Plas |
Pt |
Ord |
IA |
|
ACTIVE |
HIV 1 gp120+gp160 Ab [Presence] in Serum or Plasma by Immunoassay |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
40439-2 |
|
IA |
|
|
Observation |
|
|
|
0 |
HIV1 gp120+gp160 Ab SerPl Ql IA |
|
|
|
N |
|
ABS; Aby; AIDS; Antby; Anti; Antibodies; Antibody; Autoantibodies; Autoantibody; EIA; ELFA; ELISA; Enzyme immunoassay; HIV type 1; HIV type I; HIV1; HIV1 gp120; HIV1 gp120+gp160; Human immunodeficiency virus; i; IAA; ID; Infectious Disease; InfectiousDisease; MEIA; Microbiology; Ordinal; Pl; Plasma; Plsm; Point in time; PR; QL; Qual; Qualitative; Random; Screen; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; SUDS |
2.56 |
2.15 |
|
|
|
|
|
|
|
|
|
|
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.; The EIA method, which was always intended to cover more than just enzyme-linked immunoassay and whose display name for the long common name has always been Immunoassay, was renamed IA in order to eliminate ambiguity about whether the method has a broader meaning than just enzyme-linked immunoassay. Likewise, EIA.rapid was renamed IA.rapid. These changes were approved by the Laboratory LOINC Committee in June 2016. |
0 |
| 4044-4 |
Tetracaine |
MCnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Tetracaine [Mass/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
ug/mL |
|
|
|
|
|
|
DRUG/TOX |
|
4044-4 |
|
|
|
|
Both |
|
|
|
0 |
Tetracaine SerPl-mCnc |
|
|
|
Y |
|
c235; DRUG/TOXICOLOGY; Drugs; Level; Mass concentration; Pl; Plasma; Plsm; Point in time; Pontocaine; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; Tetrakain |
2.42 |
1 |
|
|
|
|
|
|
|
ug/mL |
|
|
|
0 |
| 40440-0 |
XXX microorganism serotype |
Prid |
Isolate |
Pt |
Nom |
Aggl |
|
ACTIVE |
XXX microorganism serotype [Identifier] in Isolate by Agglutination |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
40440-0 |
|
Aggl |
|
|
Both |
|
|
|
0 |
Other microorg Sertyp Islt Aggl |
|
|
|
N |
|
Agg; Agglut; Agglutination; ID; Identity or presence; Infectious Disease; InfectiousDisease; Islt; Isol; Microbiology; Microorganisms; Nominal; Org; Organism; Organisms; Other microorg; Point in time; Random; Sertyp |
2.73 |
2.15 |
|
|
|
|
|
|
|
|
|
|
|
0 |
| 40441-8 |
Breaths^post exercise |
NRat |
Respiratory system |
Pt |
Qn |
|
|
ACTIVE |
Respiratory rate --post exercise |
|
MIN |
DefinitionDescription |
|
|
breaths/min |
|
|
|
|
|
|
PULM |
|
40441-8 |
|
|
|
|
|
|
|
|
0 |
Resp rate p Exc |
|
|
|
N |
|
After; Breathing; Count/time; EXCZ; Lung; Lungs; nRate; Number rate; Number Rate = Count/Time; p Exc; Point in time; PST; Pulmonary; Pulmonology; QNT; Quan; Quant; Quantitative; Random; Respiratory; Respiratory rate; RS |
2.73 |
2.15 |
|
|
|
|
|
|
|
{breaths}/min |
|
|
|
0 |
