| 53870-2 |
HPS1 gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
HPS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
(NOTE)DIAGNOSTIC REQUEST: HERMANSKY PUDLAK SYNDROME 1 INDICATION FOR STUDY: STUDIED INDIVIDUAL HAS A MOTHER WITH HPS. INTERPRETATION: THIS PATIENT POSSESSES ONE COPY OF THE COMMON 16-bp DUPLICATION IN EXON 15 OF THE HPS GENE. SEQUENCING OF THE CODING REGION OF THE HPS1 GENE DID NOT REVEAL A SECOND MUTATION. TECHNIQUES: DIRECT TESTING FOR THE HPS GENE MUTATION (16-bp DUPLICATION IN EXON 15) ASSOCIATED WITH HERMANSKY PUDLAK SYNDROME WAS PERFORMED BY PCR AMPLIFICATION AND BI-DIRECTIONAL DNA SEQUENCING OF THE CODING EXONS OF THE HPS1 GENE. THE REFERECE SEQUENCE FOR HPS1 IS ENSEMBLE: DNSG00000107521 WITH CODON 1 CORRESPONDING TO THE START ATG AND NUCLEOTIDE 1 TO THE A. IMPLICATION FOR PATIENT: THE 16-bp DUPLICATION IS FOUND IN GREATER THAN 95% OF INDIVIDUALS WITH HPS WHO ARE OF NORTHWESTERN PUERTO RICAN DESCENT. IMPLICATION FOR FAMILY: HERMANSKY PUDLAK SYNDROME IS INHERITED AS AN AUTOSOMAL RECESSIVE DISORDER. |
|
|
|
|
|
MOLPATH.MUT |
|
53870-2 |
|
Molgen |
|
|
Both |
|
|
|
0 |
HPS1 gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Hermansky-Pudlak Syndrome; Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 1 protein; HPS; Inherited; 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 |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53871-0 |
HRAS gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
HRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MOLPATH.MUT |
|
53871-0 |
|
Molgen |
|
|
Both |
|
|
|
0 |
HRAS gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; C-BAS/HAS; C-HA-RAS1; C-H-RAS; CTLO; Document; Finding; Findings; Genetics; HAMSV; Harvey rat sarcoma viral oncogene homolog; Harvey rat sarcoma virus oncogene; Heredity; Heritable; HRAS1; H-RASIDX; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; p21ras; PCR; Point in time; Random; RASH1; Tissue; Tissue, unspecified; v-Ha-ras viral oncogene homolog pseudogene; WB; Whole blood; Whole blood or Tissue |
2.66 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53872-8 |
Iodine |
MCnc |
Urine |
XXX |
Qn |
|
|
ACTIVE |
Iodine [Mass/volume] in Urine collected for unspecified duration |
|
MIN |
DefinitionDescription |
|
|
ug/mL |
|
|
|
|
|
|
CHEM |
|
53872-8 |
|
|
|
|
Both |
|
|
|
0 |
Iodine ?Tm Ur-mCnc |
|
|
|
N |
|
?Tm; c616; Chemistry; i; I-; Level; Mass concentration; QNT; Quan; Quant; Quantitative; UA; UR; Urn |
2.73 |
2.26 |
|
|
|
|
|
|
|
ug/mL |
|
|
|
0 |
| 53873-6 |
IRF6 gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
IRF6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
TEST REQUESTED: IRF6 GENE/VAN DER WOUDE SYNDROME (VWS) METHODS: GENOMIC DNA FROM THIS SPECIMEN WAS PCR-AMPLIFIED FOR ANALYSIS OF THE CODING EXONS 2-9 OF THE IRF6 GENE AND THEIR FLANKING SPLITE SITES. BI-DIRECTIONALLY SEQUENCED WAS OBTAINED AND DNA SEQUENCE WAS ANALYZED AND COMPARED TO THE PUBLISHED GENE SEQUENCE. THE METHODS USED BY GENEDX ARE EXPECTED TO BE GREATER THAN 99% SENSITIVE IN DETECTING MUTATIONS IDENTIFIABLE BY SEQUENCING. RESULT: NEGATIVE NO DISEASE-ASSOCIATED MUTATION WAS IDENTIFIED IN THE CODING REGION OF THE IRF6 GENE IN THE SUBMITTED SPECIMEN. HETEROZYGOSITY OF NO KNOWN CLINICAL SIGNIFICANCE WAS OBSERVED (HETEROZYGOUS POSITION(S): Ser153Ser(TCG/TCT), Val274IlE(GTC/ATC), IVS1-4 a/g, IVS6+27 c/g, IVS7+37 c/t). INTERPRETATION: NO MUTATION KNOWN TO BE ASSOCIATED WITH VAN DER WOUDE SYNDROME (VWS) OR POPLITEAL PTERYGIUM SYNDROME (PPS) WAS IDENTIFIED BY THIS ANALYSIS OF THE IRF6 GENE. APPROXIMATELY 70% OF INDIVIDUALS WITH A CLINICAL DIAGNOSIS OF VWS WERE FOUND TO HAVE MUTATIONS IN THE IRF6 GENE. DELETIONS HAVE BEEN REPORTED IN AT LEAST 2% OF PATIENTS WITH VWS. THE PRESENCE OF HETEROZYGOSITY IN THIS ANALYSIS EXCLUDES A WHOLE IRF6 GENE DELETION AND A PARTIAL DELETION AT THESE POSITIONS IN THIS INDIVIDUAL. |
|
|
|
|
|
MOLPATH.MUT |
|
53873-6 |
|
Molgen |
|
|
Both |
|
|
|
0 |
IRF6 gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; interferon regulatory factor 6; IRF-6; LPS; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; OFC6; PCR; PIT; Point in time; PPS; PPS1; Random; Tissue; Tissue, unspecified; VWS; VWS1; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53874-4 |
Jamestown canyon virus RNA |
ACnc |
XXX |
Pt |
Qn |
Probe.amp.tar |
|
ACTIVE |
Jamestown canyon virus RNA [Units/volume] (viral load) in Specimen by NAA with probe detection |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
53874-4 |
|
Probe.amp.tar |
|
|
Both |
|
|
|
0 |
JCV RNA Spec NAA+probe-aCnc |
|
|
|
N |
|
3 Self-Sustaining Sequence Replication; 3SR SR; Amplif; Amplification; Amplified; Arbitrary concentration; DNA NUCLEIC ACID PROBE; DNA probe; ID; Infectious Disease; InfectiousDisease; JCV; LAT; LCR; Ligase chain reaction; Ligation-activated transcription; Microbiology; Misc; Miscellaneous; NAA+probe; NAAT; NASBA; Nucleic acid sequence based analysis; Other; PCR; Point in time; Polymerase chain reaction; Probe amp; Probe with ampification; Probe with target amplification; QBR; QNT; Quan; Quant; Quantitative; Random; Ribonucleic acid; SDA; Spec; Strand Displacement Amplification; TMA; To be specified in another part of the message; Transcription mediated amplification; Unspecified; Viral load |
2.7 |
2.26 |
|
|
|
|
|
|
|
[arb'U]/mL |
|
|
|
0 |
| 53875-1 |
LMX1B gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
LMX1B gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
FINAL REPORT (NOTE)TEST REQUESTED: LMX1B METHODOLOGY: THE 8 EXONS OF THE LMX1B GENE WERE AMPLIFIED BY PCR. THE AMPLIFIED PRODUCTS WERE THEN SEQUENCED USING ABI 3730 SEQUENCERS AND ANALYZED FOR SEQUENCE VARIATIONS. THE SIGNIFICANCE OF THE VARIATIONS WAS DETERMINED BY COMPARISON WITH WILD TYPE SEQUENCES, PREVIOUSLY REPORTED MUTATIONS AND CORRELATION WITH THE STRUCTURE OF LIM HOMCOBOX TRANSCRIPTION FACTOR 1, BETA. BACKGROUND: NAIL PATELLA SYNDROME (NPS; MIM 161200) IS A DOMINANTLY INHERITED DISORDER CHARACTERIZED BY DYSPLASIA OF THE NAILS, HYPOPLASTIC OR ABSENT PATELLAE, CHARACTERISTIC BONY PROJECTIONS FROM THE ILIAC WINGS, ABNORMALITIES OF THE ELBOWS, AND IN SOME INSTANCES OPEN ANGLE GLAUCOMA. NEPHROPATHY AND NEUROLOGICAL OR VASOMOTOR SYMPTOMS CAN ALSO BE SEEN. THIS DISORDER IS CAUSED BY LOSS OF FUNCTION MUTATIONS IN LMX1B. THE LMX1B GENE CODES FOR A HOMEODOMAIN PROTEIN CONTAINING TWO N-TERMINAL ZINC BINDING DOMAINS, A HOMEODOMAIN, AND A C-TERMINAL GLUTAMINE RICH DOMAIN. THIS TRANSCRIPTION FACTOR PLAYS AN IMPORTANT ROLE IN DORSAL-VONTRAL PATTERING OF THE LIMB. IT CONTROLS THE INITIAL TRAJECTORY OF MOTOR AXONS IN THE DEVELOPING LIMB. IT IS ALSO BELIEVED TO REGULATE THE EXPRESSION OF THE COL4A3 AND CLO4A4 GENES REQUIRED FOR NORMAL GLOMERULAR BASEMENT MEMBRANE MORPHOGENESIS. RESULTS: MUTATION: LMX1B EXON 2 NUCLEOTIDE: c.106delT AMINO ACID: NA CONSISTENT WITH THE CLINICAL DIAGNOSIS OF: NAIL PATELLA SYNDROME DNA ANALYSIS REVEALED A c.106delT IN EXON 2 OF LMX1B GENE. THIS SINGLE NUCLEOTIDE DELETION WILL CAUSE A FRAMESHIFT AND RESULT IN ABERRANT mRNA PROCESSING. THIS FINDING IS CONSISTENT WITH A DISEASE CAUSING MUTATION. THE PATIENT IS HETEROZYGOUS FOR THIS MUTATION. |
|
|
|
|
|
MOLPATH.MUT |
|
53875-1 |
|
Molgen |
|
|
Both |
|
|
|
0 |
LMX1B gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LIM homeo box transcription factor 1, beta; LIM homeobox transcription factor 1, beta; LIM/homeobox protein 1.2; LIM/homeobox protein LMX1B; LMX1.2; LMX-1.2; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; NPS1; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53876-9 |
LRRK2 gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
LRRK2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
FINAL REPORT (NOTE)LRRK2 DNA SEQUENCE VARIANTS: NO ABNORMAL DNA SEQUENCE VARIANTS WERE IDENTIFIED IN THE SELECT CODONS ANALYZED. Reference Range: No sequence variations detected |
|
|
|
|
|
MOLPATH.MUT |
|
53876-9 |
|
Molgen |
|
|
Both |
|
|
|
0 |
LRRK2 gene Mut Anl Bld/T |
|
|
|
N |
|
AURA17; Blood; DARDARIN; Genetics; Heredity; Heritable; Identity or presence; Inherited; leucine-rich repeat kinase 2; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PARK8; Parkinson disease; PCR; Point in time; Random; RIPK7; ROCO2; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.63 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53877-7 |
NAGS gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
NAGS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
FINAL REPORT (NOTE)TEST: N-ACETYLGLUTAMATE SYNTHASE MOLECULAR ANALYSIS INTERPRETATION: WE SCREENED ALL 7 EXONS AND EXON/INTRON BOUNDARIES BY DNA SEQUENCING. NO DELETERIOUS MUTATIONS WERE FOUND. |
|
|
|
|
|
MOLPATH.MUT |
|
53877-7 |
|
Molgen |
|
|
Both |
|
|
|
0 |
NAGS gene Mut Anl Bld/T |
|
|
|
N |
|
AGAS; Amino-Acid Acetyltransferase; ARGA; Blood; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; N-Acetylglutamate Synthase; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53878-5 |
Neisseria gonorrhoeae rRNA |
ACnc |
Penis |
Pt |
Ord |
Probe.amp.tar |
|
DEPRECATED |
Deprecated Neisseria gonorrhoeae rRNA [Presence] in Penis by Probe and target amplification method |
|
DEL |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
53878-5 |
|
Probe.amp.tar |
|
|
Both |
|
|
|
0 |
Deprecated N gonorrhoea rRNA Penis Ql PC |
|
|
|
N |
|
3 Self-Sustaining Sequence Replication; 3SR SR; Amplif; Amplification; Amplified; Arbitrary concentration; DNA NUCLEIC ACID PROBE; DNA probe; GC; Gen-Probe; Gono; Gonorrhea; ID; Infectious Disease; InfectiousDisease; LAT; LCR; Ligase chain reaction; Ligation-activated transcription; Microbiology; N gonorrhoea; N gonorrhoeae; NAA+probe; NAAT; NASBA; Nucleic acid sequence based analysis; Ordinal; PCR; Pen; Penile; Point in time; Polymerase chain reaction; Probe amp; Probe with ampification; Probe with target amplification; QBR; QL; Qual; Qualitative; Random; ribosomal RNA; Screen; SDA; Strand Displacement Amplification; TMA; Transcription mediated amplification |
2.52 |
2.26 |
|
|
|
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 |
| 53879-3 |
Neisseria gonorrhoeae rRNA |
PrThr |
Vag |
Pt |
Ord |
Probe.amp.tar |
|
ACTIVE |
Neisseria gonorrhoeae rRNA [Presence] in Vaginal fluid by NAA with probe detection |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
53879-3 |
|
Probe.amp.tar |
|
|
Both |
|
|
|
0 |
N gonorrhoea rRNA Vag Ql NAA+probe |
|
|
|
N |
|
3 Self-Sustaining Sequence Replication; 3SR SR; Amplif; Amplification; Amplified; DNA NUCLEIC ACID PROBE; DNA probe; GC; Genital vaginal; Gen-Probe; Gono; Gonorrhea; Gyn; Gynecology; ID; Infectious Disease; InfectiousDisease; LAT; LCR; Ligase chain reaction; Ligation-activated transcription; Microbiology; N gonorrhoea; N gonorrhoeae; NAA+probe; NAAT; NASBA; Nucleic acid sequence based analysis; OB; ObGyn; Obstetrics; Ordinal; PCR; Point in time; Polymerase chain reaction; PR; Probe amp; Probe with ampification; Probe with target amplification; QBR; QL; Qual; Qualitative; Random; ribosomal RNA; Screen; SDA; Strand Displacement Amplification; TMA; Transcription mediated amplification; Vag fld; Vag fluid; Vagina; Vaginal fluid |
2.73 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 5388-4 |
Toxoplasma gondii Ab.IgG |
ACnc |
Ser/Plas |
Pt |
Qn |
IA |
|
ACTIVE |
Toxoplasma gondii IgG Ab [Units/volume] in Serum or Plasma by Immunoassay |
|
MIN |
DefinitionDescription |
|
|
EIA Index; REV; units/mL |
|
|
|
|
|
|
MICRO |
|
5388-4 |
|
IA |
|
|
Both |
|
|
|
0 |
T gondii IgG SerPl IA-aCnc |
|
|
|
Y |
|
ABS; Aby; Antby; Anti; Antibodies; Antibody; Arbitrary concentration; Autoantibodies; Autoantibody; EIA; ELFA; ELISA; Enzyme immunoassay; IAA; ID; Immune globulin G; Immunoglobulin G; Infectious Disease; InfectiousDisease; MEIA; Microbiology; Pl; Plasma; Plsm; Point in time; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR; SUDS; T gondii; Toxo; Toxoplasmosis; UniversalLabOrders |
2.73 |
1 |
|
|
|
|
|
|
|
[arb'U]/mL |
|
|
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 |
| 53880-1 |
Norbuprenorphine |
MCnc |
Ser/Plas |
Pt |
Qn |
Confirm |
|
ACTIVE |
Norbuprenorphine [Mass/volume] in Serum or Plasma by Confirmatory method |
|
MIN |
DefinitionDescription |
|
|
ng/mL |
|
|
|
|
|
|
DRUG/TOX |
|
53880-1 |
|
Confirm |
|
|
Both |
|
|
|
0 |
Norbuprenorphine SerPl Cfm-mCnc |
|
|
|
N |
|
Addiction; Buprenorphine metabolite; Cfm; CNFR; CNFRM; Conf; Confirmation; Confirmatory; DRUG/TOXICOLOGY; Drugs; Drugs of abuse; GCMS; Illicit; LC/MS/MS; Level; Mass concentration; NBU; norBUP; Pl; Plasma; Plsm; Point in time; PotentialForAbuse; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR |
2.73 |
2.26 |
|
|
|
|
|
|
|
ng/mL |
|
|
|
0 |
| 53881-9 |
Norbuprenorphine |
MCnc |
Ser/Plas |
Pt |
Qn |
|
|
ACTIVE |
Norbuprenorphine [Mass/volume] in Serum or Plasma |
|
MIN |
DefinitionDescription |
|
|
ng/mL |
|
|
|
|
|
|
DRUG/TOX |
|
53881-9 |
|
|
|
|
Both |
|
|
|
0 |
Norbuprenorphine SerPl-mCnc |
|
|
|
N |
|
Addiction; Buprenorphine metabolite; DRUG/TOXICOLOGY; Drugs; Drugs of abuse; Illicit; Level; Mass concentration; NBU; norBUP; Pl; Plasma; Plsm; Point in time; PotentialForAbuse; QNT; Quan; Quant; Quantitative; Random; SerP; SerPl; SerPlas; Serum; Serum or plasma; SR |
2.73 |
2.26 |
|
|
|
|
|
|
|
ng/mL |
|
|
|
0 |
| 53882-7 |
O-desmethylvenlafaxine |
MCnc |
Urine |
Pt |
Qn |
|
|
ACTIVE |
O-desmethylvenlafaxine [Mass/volume] in Urine |
|
NAM |
DefinitionDescription |
|
|
ng/mL |
|
|
|
|
|
|
DRUG/TOX |
|
53882-7 |
|
|
|
|
Both |
|
|
|
0 |
ODV Ur-mCnc |
|
|
|
N |
|
Desmeth; Desvenlafaxine; DRUG/TOXICOLOGY; Drugs; Level; Mass concentration; Norvenlafaxin; Norvenlafaxine; O-desmethylvenlafaxine; ODV; Point in time; Pristiq; QNT; Quan; Quant; Quantitative; Random; UA; UR; Urn; Venlafaxine metabolite |
2.69 |
2.26 |
|
|
|
|
|
|
|
ng/mL |
|
|
Release 2.69: COMPONENT: Resolve ambiguity in name norvenlafaxine, which has O-desmethyl and N-desmethyl forms, O-desmethyl reported to be the one measured in assays.; |
0 |
| 53883-5 |
OCRL1 gene targeted mutation analysis |
Prid |
Bld/Tiss |
Pt |
Nom |
Molgen |
|
ACTIVE |
OCRL1 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |
|
MIN |
DefinitionDescription |
|
|
|
FINAL REPORT (NOTE)TEST: LOWE SYNDROME OCRL1 GENE SEQUENCING RESULTS: NO MUTATION DETECTED INTERPRETATION: It is our understanding that this individual has clinical features that are consistent with a diagnosis of Lowe syndrome. We were requested to perform sequence analysis of the OCRL gene for this individual. Genomic DNA from this individual was analyzed by automated fluorescent DNA sequencing, which did not identify a single nucleotide substitution, deletion, or small insertion that could be classified as a disease-causing mutation in the coding region of the OCRL gene. This DNA sequence analysis is estimated to detect approximately 90% of mutations in males affected with Lowe syndrome. Therefore, these negative sequencing results neither confirm nor rule out the diagnosis of Lowe syndrome. Diagnostic testing using biochemical enzymatic analysis of the OCRL gene product (phosphatidylinositol-4,5-bisphosphate phosphatase OCRL-1) is recommended for males with a possible or definite clinical diagnosis Lowe syndrome. METHODOLOGY: Genomic DNA from this individual was used for PCR amplification of 22 exons (2 through 23) contained in the coding region of the OCRL gene (Genbank accession number NM_001587). Primers for these exons flank the respective portions of the OCRL coding region and the appropriate intron/exon junctions. Direct sequence analysis of PCR products corresponding to the entire OCRL gene coding region is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods. The base numbering refers to the A of the ATG start codon as position 1 and the mutation nomenclature is based on the convention recommended by Ogino et al. (J Mo I Diagn 2007, 9:1-6). |
|
|
|
|
|
MOLPATH.MUT |
|
53883-5 |
|
Molgen |
|
|
Both |
|
|
|
0 |
OCRL1 gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Genetics; Heredity; Heritable; Identity or presence; Inherited; INPP5F; LOCR; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; NPHL2; OCRL1; OCRL-1; oculocerebrorenal syndrome of Lowe; ovarian cancer-related protein 1; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.63 |
2.26 |
|
|
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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 |
| 53884-3 |
OTOF gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
OTOF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
FINAL REPORT Performed at MGH LAB OF MOLECULAR MEDICINE, Center for Genetics and Genomics, 65 Landsdowne Street, Cambridge, MA (NOTE)OTOF Gene Test: Negative. DNA sequencing did not detect any clinically significant variants in the coding regions or splice sites of the OTOF gene. Although this test examines all regions known to contain pathogenic variants in this gene, it does not detect all variants in non-coding regions or large deletions that could affect expression of the gene. |
|
|
|
|
|
MOLPATH.MUT |
|
53884-3 |
|
Molgen |
|
|
Both |
|
|
|
0 |
OTOF gene Mut Anl Bld/T |
|
|
|
N |
|
AUNB1; Blood; DFNB6; DFNB9; Document; FER1L2; Fer-1-like protein 2; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; NSRD9; otoferlin; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53885-0 |
Parvovirus B19 Ab.IgG |
ACnc |
Body fld |
Pt |
Qn |
|
|
ACTIVE |
Parvovirus B19 IgG Ab [Units/volume] in Body fluid |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
53885-0 |
|
|
|
|
Both |
|
|
|
0 |
B19V IgG Fld-aCnc |
|
|
|
N |
|
ABS; Aby; Antby; Anti; Antibodies; Antibody; Arbitrary concentration; Autoantibodies; Autoantibody; B/F; B19 virus; B19V; BF; bod; Bodies; Body fluid; Body fluid, unsp; Fifth Disease; Fl; Fld; FLU; Fluid; ID; Immune globulin G; Immunoglobulin G; Infectious Disease; InfectiousDisease; Microbiology; Parvo; Parvo virus; Parvov; Point in time; QNT; Quan; Quant; Quantitative; Random |
2.69 |
2.26 |
|
|
|
|
|
|
|
[arb'U]/mL |
|
|
|
0 |
| 53886-8 |
Parvovirus B19 Ab.IgM |
ACnc |
Body fld |
Pt |
Qn |
|
|
ACTIVE |
Parvovirus B19 IgM Ab [Units/volume] in Body fluid |
|
MIN |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
MICRO |
|
53886-8 |
|
|
|
|
Both |
|
|
|
0 |
B19V IgM Fld-aCnc |
|
|
|
N |
|
ABS; Aby; Antby; Anti; Antibodies; Antibody; Arbitrary concentration; Autoantibodies; Autoantibody; B/F; B19 virus; B19V; BF; bod; Bodies; Body fluid; Body fluid, unsp; Fifth Disease; Fl; Fld; FLU; Fluid; ID; Immune globulin M; Immunoglobulin M; Infectious Disease; InfectiousDisease; Microbiology; Parvo; Parvo virus; Parvov; Point in time; QNT; Quan; Quant; Quantitative; Random |
2.69 |
2.26 |
|
|
|
|
|
|
|
[arb'U]/mL |
|
|
|
0 |
| 53887-6 |
PCCA gene+PCCB gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PCCA gene+PCCB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
(NOTE)TEST: Propionic Acidemia (PCCA and PCCB Gene Sequencing) Results: Mutation detected. Two copies of a c.1173dupT duplication mutation were detected in the PCCB gene in this patient. Interpretation A sample from this patient was referred to our laboratory for molecular testing for propionic acidemia. Two mutant copies of one of these subunit genes are required to cause PA, Information provided to us indicates that this patient has a diagnosis of PA. Sequence analysis of the entire coding region of the PCCA and PCCB genes identified two copies of a c.l173dupT duplication mutation in exon 11 of the PCCB gene, The base numbering convention used refers to position 1 as the beginning of the ATG start codon (Genbank accession number NM_000532.3). No mutations in the PCCA gene were detected. The c. 1173dupT duplication mutation is predicted to result in a premature translation stop downstream of the mutation. This mutation has been reported in patients with PA. It is important to note that this assay cannot differentiate the presence of the mutation in both PCCB genes from the presence of the mutation in one gene combined, with a deletion of/in the second gene. The identification of two PCCB gene mutations is consistent with a diagnosis of PA in this patient. These results must be interpreted in the context of this patient's clinical and biochemical profile. Testing parental samples is required to rule out the presence of a deletion on one chromosome. Genetic counseling is recommended. Sequence analysis also identified two homozygous (two copies) variants, IVS11+19A>G (intron 11) and IVS18-31A>G (intron 18), in the PCCA genes of this patient. These changes are observed in the general population and are interpreted as being benign variants. |
|
|
|
|
|
MOLPATH.MUT |
|
53887-6 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PCCA+PCCB gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; pccA complementation group; PCCA+PCCB gene; PCCase alpha subunit; PCCase subunit beta; PCR; Point in time; propanoyl-CoA:carbon dioxide ligase alpha subunit; Propanoyl-CoA:carbon dioxide ligase subunit alpha; Propanoyl-CoA:carbon dioxide ligase subunit beta; propionyl CoA carboxylase, alpha polypeptide; propionyl Coenzyme A carboxylase, beta polypeptide; Propionyl-CoA carboxylase; propionyl-CoA carboxylase alpha chain, mitochondrial; propionyl-Coenzyme A carboxylase, alpha polypeptide; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53888-4 |
PHEX gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PHEX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
(NOTE)Single-Gene Test : PHEX Association of this individual's PHEX sequence with X-linked Hypophosphatemic Rickets is possible, but uncertain. Technical Results: The coding sequence of PHEX is amplified and analyzed in 22 segments (amplicons). Analysis was successful for 22 of the amplicons. Nucleotide Change c.2009A>T Amino Acid Change p.Glu670Val Zygosity hemizygous Relationship to X-linked Hypophosphatemic Rickets dominant, possibly associated Nucleotide Change c.l769-10C>T Amino Acid Change NA Zygosity hemizygous Relationship to X-linked Hypophosphatemic Rickets very unlikely to be associated Single-Gene Test : FGF23 This individual's FGF23 sequence is identifal to the reference sequence. No sequence variants were detected. Comments FGF23 is located on an atuosomal chromosome. In this individual's FGF23 sequence, no sequence variants were detected. The sequence variant profile found does not support a diagnosis of Autosomal Dominant Hypophosphatemic Rickets. However, a different genetic basis for Autosomal Dominant Hypophosphatemic Rickets cannot be ruled out. Technical Results: The coding sequence of FGF23 is amplified and analyzed in 4 segments (amplicons). Analysis was successful for 4 of the amplicons. Nucleotide Change: none |
|
|
|
|
|
MOLPATH.MUT |
|
53888-4 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PHEX gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; Finding; Findings; Genetics; Heredity; Heritable; HPDR; HPDR1; HYP; HYP1; Inherited; LXHR; Metalloendopeptidase homolog PEX; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; PEX; phosphate regulating endopeptidase homolog, X-linked; phosphate-regulating neutral endopeptidase; Point in time; Random; Tissue; Tissue, unspecified; Vitamin D-resistant hypophosphatemic rickets protein; WB; Whole blood; Whole blood or Tissue; XLH; X-linked hypophosphatemia protein |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53889-2 |
Platelet aggregation.arachidonate induced |
ThrACnc |
PRP |
Pt |
Qn |
|
|
DEPRECATED |
Deprecated Platelet aggregation.arachidonate induced |
|
DEL |
DefinitionDescription |
|
|
|
|
|
|
|
|
|
DRUG/TOX |
|
53889-2 |
|
|
|
|
Observation |
|
|
|
0 |
Deprecated Platelet Agg AA PRP |
|
|
|
N |
|
5,8,11,14 Eicosatetraenoic acid; AA; Agg; Aggr; Arachidonic acid; Arch acid; Aspirin Assay; C20:4w6; DRUG/TOXICOLOGY; Drugs; Eicosatetraenoate; PA; PA AA; Pl; Platelet rich plasma; Platelets; Platelt; Plt; Point in time; QNT; Quan; Quant; Quantitative; Random; Threshold arbitrary concentration; Thrombocyte; Thrombocytes |
2.36 |
2.26 |
|
|
|
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 |
| 5389-2 |
Toxoplasma gondii Ab.IgG |
Titr |
Ser |
Pt |
SemiQn |
IF |
|
ACTIVE |
Toxoplasma gondii IgG Ab [Titer] in Serum by Immunofluorescence |
|
MAJ |
DefinitionDescription |
|
|
titer |
|
|
|
|
|
|
MICRO |
|
5389-2 |
|
IF |
|
|
Both |
|
|
|
0 |
T gondii IgG Titr Ser IF |
|
|
|
Y |
|
ABS; Aby; ACIF; Antby; Anti; Antibodies; Antibody; Anticomplement Immunofluorescence; Autoantibodies; Autoantibody; Dilution factor; Dilution Factor (Titer); FA; Fluorescent antibody; Fluoresent; ID; IFA; Immune fluorescence; Immune globulin G; Immunoflour; Immunofluor; Immunofluorescence; Immunoglobulin G; Infectious Disease; InfectiousDisease; Microbiology; Point in time; Random; Serum; SmQn; SR; T gondii; Time Resolved Fluorescence; Titer; Titered; Titre; Toxo; Toxoplasmosis; TRF; Ttr |
2.75 |
1 |
|
|
|
|
|
|
|
{titer} |
|
|
|
0 |
| 53890-0 |
PLOD1 gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PLOD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MAJ |
DefinitionDescription |
|
|
|
FINAL REPORT (NOTE)TEST REQUESTED: PLOD1 METHODOLOGY: All 19 exons of the PLOD1 gene were amplified by PCR. The amplified products were then sequenced using ABI 3730 sequencers and analyzed for sequence variations. The significance of the variations was determined by comparison with wild type sequences, previously reported mutations, and correlation with lysyl hydroxylase 1 protein structure. Although DNA sequencing is a highly sensitive methodology, mutation detection may not be 100 %. BACKGROUND: Ehlers-Danlos syndrome (EDS) is a connective tissue disorder composed of numerous subtypes with distinct genetic and clinical findings. In general EDS is characterised hy joint hypermobility, skin hyperextensibility, and tissue fragility. The kyphoscoliotic type, EDS VI (MIM 225400), is an autosomal recessive disorder. It is characterized by severe muscular hypotonia, kyphoscoliosis at birth, generalized joint laxity, scleral fragility, and rupture of the ocular globe. Additional findings include arterial rupture, ostcopenia, marfanoid habitus, microcornea, easy bruising, and atrophic scars. EDS VI is biochemically characterized by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1. RESULTS: MUTATION: NONE The PLODl gene did not contain detectable mutations consistent with the kyphoscoliotic type of EDS. |
|
|
|
|
|
MOLPATH.MUT |
|
53890-0 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PLOD1 gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; Document; EDS6; Ehlers-Danlos syndrome type VI; Finding; Findings; Genetics; Heredity; Heritable; Inherited; LH; LH1; LLH; lysine hydroxylase; Lysyl hydroxylase 1; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; PLOD; Point in time; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.66 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53891-8 |
PNKD gene targeted mutation analysis |
Find |
Bld/Tiss |
Pt |
Doc |
Molgen |
|
ACTIVE |
PNKD gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |
|
MIN |
DefinitionDescription |
|
|
|
FINAL REPORT (NOTE)TEST: PAROXYSMAL NONKINESIGENIC DYSKINESIA VIA PNKD GENE SEQUENCING SUMMARY OF RESULTS: NEGATIVE METHODS: USING GENOMIC DNA EXTRACTED FROM THE PATIENT'S CELLS, WE AMPLIFIED AND SEQUENCED THE FULL CODING REGIONS OF THE INDICATED EXONS AS WELL AS APPROXIMATELY 50 BASES OF FLANKING NON-CODING SEQUENCES. WE THEN ALIGNED AND COMPARED THE PATIENT'S SEQUENCES WITH THE REFERENCE SEQUENCES. ALL DIFFERENCES FROM THE REFERENCE SEQUENCES ARE REPORTED. RESULTS AND INTERPRETATIONS: IN THIS PATIENT, FOR THE PNKD GENE, WE FOUND NO DIFFERENCES AT ALL FOR THE REFERENCE SEQUENCES. EXON 1-11: DNA SEQUENCE VARIATION/MUTATION: NONE DETECTED |
|
|
|
|
|
MOLPATH.MUT |
|
53891-8 |
|
Molgen |
|
|
Both |
|
|
|
0 |
PNKD gene Mut Anl Bld/T |
|
|
|
N |
|
Blood; brain protein 17; BRP17; Document; DYT8; Finding; Findings; FKSG19; FPD1; Genetics; Heredity; Heritable; Inherited; KIPP1184; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MR1; MR-1; Mut; Mut Anl; Mutations; Myofibrillogenesis regulator 1; paroxysmal nonkinesigenic dyskinesia; Paroxysmal nonkinesiogenic dyskinesia protein; PCR; PDC; PKND1; Point in time; Random; TAHCCP2; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue |
2.68 |
2.26 |
|
|
|
|
|
|
|
|
|
|
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 |
| 53892-6 |
Ribosomal P Ab.IgG |
ACnc |
Ser |
Pt |
Qn |
|
|
ACTIVE |
Ribosomal P IgG Ab [Units/volume] in Serum |
|
MIN |
DefinitionDescription |
|
|
|
<0.2 -- REFERENCE VALUE -- <1.0 (Negative) > or =1.0 (Positive) |
|
|
|
|
|
SERO |
|
53892-6 |
|
|
|
|
Both |
|
|
|
0 |
Ribosomal P IgG Ser-aCnc |
|
|
|
N |
|
ABS; Aby; Antby; Anti; Antibodies; Antibody; Arbitrary concentration; Autoantibodies; Autoantibody; Immune globulin G; Immunoglobulin G; P prime; Point in time; QNT; Quan; Quant; Quantitative; Random; Ribosomal P Protein; Rib-P; RPP; Serology; Serum; SR |
2.73 |
2.26 |
|
|
|
|
|
|
|
[arb'U]/mL |
|
|
|
0 |
