Norwegian Laboratory Codebook (NLK) - FHIR Implementation Guide
0.2.2 - ci-build
Norwegian Laboratory Codebook (NLK) - FHIR Implementation Guide - Downloaded Version 0.2.2 See the Directory of published versions
| Draft as of 2025-09-24 |
{
"resourceType" : "CodeSystem",
"id" : "norsk-laboratoriekodeverk-medical-genetics",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem norsk-laboratoriekodeverk-medical-genetics</b></p><a name=\"norsk-laboratoriekodeverk-medical-genetics\"> </a><a name=\"hcnorsk-laboratoriekodeverk-medical-genetics\"> </a><p><b>Properties</b></p><p><b>This code system defines the following properties for its concepts</b></p><table class=\"grid\"><tr><td><b>Name</b></td><td><b>Code</b></td><td><b>Type</b></td><td><b>Description</b></td></tr><tr><td>validFrom</td><td>validFrom</td><td>dateTime</td><td>Valid from date</td></tr><tr><td>validTo</td><td>validTo</td><td>dateTime</td><td>Valid to date</td></tr><tr><td>replacedBy</td><td>replacedBy</td><td>code</td><td>Code that replaces this code</td></tr><tr><td>changeDate</td><td>changeDate</td><td>dateTime</td><td>Date of last change</td></tr><tr><td>codeDefinition</td><td>codeDefinition</td><td>string</td><td>Technical code definition</td></tr><tr><td>component</td><td>component</td><td>string</td><td>Component being measured</td></tr><tr><td>componentSpec</td><td>componentSpec</td><td>string</td><td>Component specification</td></tr><tr><td>system</td><td>system</td><td>string</td><td>System/specimen type</td></tr><tr><td>systemSpec</td><td>systemSpec</td><td>string</td><td>System specification</td></tr><tr><td>propertyType</td><td>propertyType</td><td>string</td><td>Type of property measured</td></tr><tr><td>propertySpec</td><td>propertySpec</td><td>string</td><td>Property specification</td></tr><tr><td>unit</td><td>unit</td><td>string</td><td>Unit of measurement</td></tr><tr><td>primaryDomain</td><td>primaryDomain</td><td>string</td><td>Primary medical domain</td></tr><tr><td>secondaryDomain</td><td>secondaryDomain</td><td>string</td><td>Secondary medical domain</td></tr><tr><td>grouping</td><td>grouping</td><td>string</td><td>Grouping category</td></tr></table><p><b>Concepts</b></p><p>This case-sensitive code system <code>http://hl7.no/fhir/ig/nlk-test/CodeSystem/norsk-laboratoriekodeverk-medical-genetics</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td><td><b>validFrom</b></td><td><b>validTo</b></td><td><b>replacedBy</b></td><td><b>changeDate</b></td><td><b>component</b></td><td><b>componentSpec</b></td><td><b>system</b></td><td><b>systemSpec</b></td><td><b>propertyType</b></td><td><b>propertySpec</b></td><td><b>primaryDomain</b></td><td><b>secondaryDomain</b></td><td><b>grouping</b></td></tr><tr><td style=\"white-space:nowrap\">NOR15177<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR15177\"> </a></td><td>DNA-Mitokondriegenom-sekvensering</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td>Medisinsk biokjemi</td><td/></tr><tr><td style=\"white-space:nowrap\">NOR25416<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25416\"> </a></td><td>Ce-Dyrkning</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2018-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25420<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25420\"> </a></td><td>RNA-Ekspresjonsprofilering</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td/><td>Undersøkelse av genekspresjonsmønster</td><td/><td>RNA</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25437<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25437\"> </a></td><td>DNA-Sangersekvensering, enkeltgen</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Sangersekvensering av et spesifikt gen</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25438<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25438\"> </a></td><td>DNA-Sangersekvensering, eksoner</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Sangersekvensering av ett eller flere utvalgte eksoner</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25439<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25439\"> </a></td><td>DNA-Gensekvensering analysepakke</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td>2017-10-23T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25440<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25440\"> </a></td><td>DNA-Sangersekvensering, variant</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Sangersekvensering av en kjent DNA-sekvensvariant</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25441<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25441\"> </a></td><td>DNA-Analysepakke DNA-sekvensvarianter</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2023-09-23T00:00:00+00:00</td><td>Undersøkelse av flere kjente DNA-sekvensvarianter</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25442<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25442\"> </a></td><td>DNA-Haplotyping</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Haplotyping for å påvise lokus for et sykdomsgen</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25443<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25443\"> </a></td><td>DNA-Metyleringsprofilering</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25444<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25444\"> </a></td><td>DNA-Eksomsekvensering</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25445<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25445\"> </a></td><td>DNA-Genomsekvensering</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25446<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25446\"> </a></td><td>DNA-Genetisk screening</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2017-11-30T23:59:00+00:00</td><td>NOR25441</td><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25463<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25463\"> </a></td><td>DNA-Kopitallsanalyse gen, MLPA</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Undersøkelse for å påvise kopitallsvariasjon vha Multiplex Ligation-dependent Probe Amplification</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25464<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25464\"> </a></td><td>Ce-Kromosomalt rearrangement, FISH</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Undersøkelse av kromosomale rearrangementer i celler vha Fluorescence In Situ Hybridization</td><td/><td>Celler</td><td/><td>takson</td><td>ISCN</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25465<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25465\"> </a></td><td>Ce-Mikroskopisk-karyotyping</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2023-09-23T00:00:00+00:00</td><td>Lysmikroskopisk kromosomanalyse av celler</td><td/><td>Celler</td><td/><td>takson</td><td>ISCN</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25466<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25466\"> </a></td><td>B-Mikroskopisk-karyotyping</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2023-09-23T00:00:00+00:00</td><td>Lysmikroskopisk kromosomanalyse av blod</td><td/><td>Blod</td><td/><td>takson</td><td>ISCN</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25467<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25467\"> </a></td><td>Ce-Mikroskopisk-karyotyping, kreftceller</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Lysmikroskopisk kromosomanalyse av kreftceller</td><td/><td>Celler</td><td/><td>takson</td><td>ISCN</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25468<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25468\"> </a></td><td>DNA-Helgenomisk kopitallsanalyse</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td>2019-03-22T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25469<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25469\"> </a></td><td>DNA-Helgenomisk homozygositetsanalyse</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25470<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25470\"> </a></td><td>Ce-Kromosomidentitet</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td>2017-10-23T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25506<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25506\"> </a></td><td>DNA-Kromatinanalyse</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25507<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25507\"> </a></td><td>DNA-Metyleringstest, metyleringssensitiv MLPA</td><td/><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Undersøkelse for å påvise metyleringsmønster vha metyleringssensitiv Multiplex Ligation-dependent Probe Amplification</td><td/><td>DNA</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25510<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25510\"> </a></td><td>B-DNA</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2018-12-31T23:59:00+00:00</td><td/><td>2013-11-13T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25511<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25511\"> </a></td><td>Ce-DNA</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2018-12-31T23:59:00+00:00</td><td/><td>2013-11-13T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25512<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25512\"> </a></td><td>B-RNA</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2018-12-31T23:59:00+00:00</td><td/><td>2013-11-13T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25513<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25513\"> </a></td><td>Ce-RNA</td><td/><td>2013-01-25T00:00:00+00:00</td><td>2018-12-31T23:59:00+00:00</td><td/><td>2013-11-13T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25808<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25808\"> </a></td><td>RNA-Sangersekvensering, eksoner</td><td/><td>2016-11-01T00:00:00+00:00</td><td/><td/><td>2022-11-23T00:00:00+00:00</td><td>Sangersekvensering av ett eller flere utvalgte eksoner</td><td/><td>RNA</td><td>spesifikasjon</td><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR25809<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR25809\"> </a></td><td>DNA-Fragmentanalyse</td><td/><td>2016-11-01T00:00:00+00:00</td><td/><td/><td>2023-09-23T00:00:00+00:00</td><td>DNA</td><td/><td>DNA</td><td>spesifikasjon</td><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35056<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35056\"> </a></td><td>DNA-Helgenomisk kopitallsanalyse fam.ktr.</td><td/><td>2018-09-24T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td>2018-11-23T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35057<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35057\"> </a></td><td>DNA-Eksom-/genomsekvensering fam.ktr.</td><td/><td>2018-09-24T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td>2018-11-23T00:00:00+00:00</td><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35103<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35103\"> </a></td><td>DNA-Gensekvensering analysepakke inkl. kopitallsanalyse</td><td/><td>2019-03-22T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35104<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35104\"> </a></td><td>DNA-Eksomsekvensering inkl. kopitallsanalyse</td><td/><td>2019-03-22T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35105<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35105\"> </a></td><td>DNA-Genomsekvensering inkl. kopitallsanalyse</td><td/><td>2019-03-22T00:00:00+00:00</td><td>2022-12-31T23:59:00+00:00</td><td/><td/><td/><td/><td/><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35218<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35218\"> </a></td><td>B-DNA ekstraksjon og lagring</td><td/><td>2021-05-25T00:00:00+00:00</td><td/><td/><td/><td>Ekstraksjon og lagring av DNA fra blodceller</td><td/><td>Blod</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35219<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35219\"> </a></td><td>Ce-DNA ekstraksjon og lagring</td><td/><td>2021-05-25T00:00:00+00:00</td><td/><td/><td/><td>Ekstraksjon og lagring av DNA fra andre celler</td><td/><td>Celler</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35220<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35220\"> </a></td><td>B-RNA ekstraksjon og lagring</td><td/><td>2021-05-25T00:00:00+00:00</td><td/><td/><td/><td>Ekstraksjon og lagring av RNA fra blodceller</td><td/><td>Blod</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35221<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35221\"> </a></td><td>Ce-RNA ekstraksjon og lagring</td><td/><td>2021-05-25T00:00:00+00:00</td><td/><td/><td/><td>Ekstraksjon og lagring av RNA fra andre celler</td><td/><td>Celler</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35222<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35222\"> </a></td><td>Ce-Dyrkning og lagring</td><td/><td>2021-05-25T00:00:00+00:00</td><td/><td/><td/><td>Dyrkning og lagring av celler</td><td/><td>Celler</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35223<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35223\"> </a></td><td>B-Dyrkning og lagring</td><td/><td>2021-05-25T00:00:00+00:00</td><td/><td/><td/><td>Dyrkning og lagring av blodceller</td><td/><td>Blod</td><td/><td/><td/><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35245<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35245\"> </a></td><td>RNA-NGS-transkriptom</td><td/><td>2022-03-23T00:00:00+00:00</td><td/><td/><td>2023-09-23T00:00:00+00:00</td><td>Neste generasjons sekvensering av hele transkriptomet</td><td/><td>RNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35255<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35255\"> </a></td><td>DNA-Anriket panel, NGS</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Neste generasjons sekvensering av flere gener for en gitt sykdom/syndrom (panel)</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35256<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35256\"> </a></td><td>DNA-Heleksom, NGS</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Neste generasjons sekvensering av hele eksomet</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35257<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35257\"> </a></td><td>DNA-Helgenom, NGS</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Neste generasjons sekvensering av hele genomet</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35258<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35258\"> </a></td><td>Tolkning, 1-10 gener eller kjente varianter</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Tolkning av genpanel, 1-10 gener eller kjente varianter</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35259<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35259\"> </a></td><td>Tolkning, 11-99 gener</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Tolkning av genpanel, 11-99 gener</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35260<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35260\"> </a></td><td>Tolkning, over 100 gener</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Tolkning av genpanel, over 100 gener</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35261<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35261\"> </a></td><td>Tolkning inkl. kopitall, 1-10 gener eller kjente varianter</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Tolkning av genpanel, inkludert kopitallsanalyse, 1-10 gener eller kjente varianter</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35262<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35262\"> </a></td><td>Tolkning inkl. kopitall, 11-99 gener</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Tolkning av genpanel, inkludert kopitallsanalyse, 11-99 gener</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35263<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35263\"> </a></td><td>Tolkning inkl. kopitall, over 100 gener</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Tolkning av genpanel, inkludert kopitallsanalyse, over 100 gener</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35264<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35264\"> </a></td><td>Retolkning av en eller flere varianter</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Retolkning av en eller flere varianter</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35265<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35265\"> </a></td><td>DNA-Heleksom, fam.ktr., NGS</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Neste generasjons sekvensering av hele eksomet, familiekontroll</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35266<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35266\"> </a></td><td>DNA-Helgenom, fam.ktr., NGS</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Neste generasjons sekvensering av hele genomet, familiekontroll</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35267<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35267\"> </a></td><td>DNA-Helgenomisk kopitallsanalyse, ArrayCGH</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Helgenomisk analyse mtp kopitallsvariasjon vha Array comparative genomic hybridization</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35268<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35268\"> </a></td><td>DNA-Helgenomisk kopitallsanalyse, SNParray</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Helgenomisk analyse mtp kopitallsvariasjon vha Single nucleotide polymorphism microarray</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35269<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35269\"> </a></td><td>DNA-Helgenomisk kopitallsanalyse, fam.ktr., ArrayCGH</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Helgenomisk analyse mtp kopitallsvariasjon, familiekontroll, vha Array comparative genomic hybridization</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35270<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35270\"> </a></td><td>DNA-Helgenomisk kopitallsanalyse, fam.ktr., SNParray</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Helgenomisk analyse mtp kopitallsvariasjon, familiekontroll, vha Single nucleotide polymorphism microarray</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35271<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35271\"> </a></td><td>DNA-Helgenomisk metyleringsanalyse, NGS</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Helgenomisk metyleringsanalyse ved Neste generasjons sekvensering</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35272<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35272\"> </a></td><td>DNA-Metyleringsprofilering, matrise</td><td/><td>2022-11-23T00:00:00+00:00</td><td/><td/><td/><td>Metyleringsprofilering, matrise</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35281<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35281\"> </a></td><td>DNA-Digital dråpe PCR</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Digital dråpe PCR</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35282<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35282\"> </a></td><td>DNA-Optisk mapping sekvensering</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Optisk mapping sekvensering</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35283<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35283\"> </a></td><td>DNA-PGT Karyomapping, fam.ktr.</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Preimplantasjonstesting, Karyomapping for haplotyping og påvisning av genetisk sekvensvariant, familiekontroll</td><td/><td>DNA</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35284<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35284\"> </a></td><td>Ce-PGT Karyomapping, blastocyst</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Preimplantasjonstesting, Karyomapping for haplotyping og påvisning av genetisk sekvensvariant, blastocyst</td><td/><td>Celler</td><td/><td>takson</td><td>ISCN/HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35285<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35285\"> </a></td><td>DNA-PGT Helgenomisk kopitallsanalyse, fam.ktr.</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Preimplantasjonstesting, Helgenomisk analyse mtp kopitallsvariasjon, familiekontroll</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35286<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35286\"> </a></td><td>Ce-PGT Helgenomisk kopitallsanalyse, blastocyst</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Preimplantasjonstesting, Helgenomisk analyse mtp kopitallsvariasjon, blastocyst</td><td/><td>Celler</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35287<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35287\"> </a></td><td>DNA-PGT Helgenom, fam.ktr., NGS</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Preimplantasjonstesting, Neste generasjons sekvensering av hele genomet, familiekontroll</td><td/><td>DNA</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NOR35288<a name=\"norsk-laboratoriekodeverk-medical-genetics-NOR35288\"> </a></td><td>Ce-PGT Helgenom blastocyst, NGS</td><td/><td>2023-09-23T00:00:00+00:00</td><td/><td/><td/><td>Preimplantasjonstesting, Neste generasjons sekvensering av hele genomet, blastocyst</td><td/><td>Celler</td><td/><td>takson</td><td>HGVS</td><td>Medisinsk genetikk</td><td/><td/></tr><tr><td style=\"white-space:nowrap\">NPU19142<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19142\"> </a></td><td>DNA-MT-ATP6</td><td>DNA(spec.)—MT-ATP6 gene; seq.var. = ?</td><td>2015-03-01T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ATP6-gen</td><td/><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19145<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19145\"> </a></td><td>DNA-MT-ND4</td><td>DNA(spec.)—MT-ND4 gene; seq.var. = ?</td><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND4-gen</td><td/><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19148<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19148\"> </a></td><td>DNA-MT-TK</td><td>DNA(spec.)—MT-TK gene; seq.var. = ?</td><td>2015-03-01T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TK-gen</td><td/><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19149<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19149\"> </a></td><td>DNA-MT-TL1</td><td>DNA(spec.)—MT-TL1 gene; seq.var. = ?</td><td>2015-03-01T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td/><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19179<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19179\"> </a></td><td>DNA-PYGM-gen</td><td>DNA(spec.)—PYGM gene; seq.var. = ?</td><td>2022-11-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>PYGM-gen</td><td/><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19293<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19293\"> </a></td><td>DNA-MT-ATP6(8993T>G, Leu156Arg)</td><td>DNA(spec.)—MT-ATP6 gene(NC_012920.1:g.8993T>G); entitic num.(0 1 2) = ?</td><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ATP6-gen</td><td>NC_012920.1:g.8993T>G</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19294<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19294\"> </a></td><td>DNA-MT-ATP6(8993T>C)</td><td>DNA(spec.)—MT-ATP6 gene(NC_012920.1:g.8993T>C); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ATP6-gen</td><td>NC_012920.1:g.8993T>C</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19296<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19296\"> </a></td><td>DNA-MT-RNR1(1555A>G)</td><td>DNA(spec.)—MT-RNR1 gene(NC_012920.1:g.1555A>G); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-RNR1-gen</td><td>NC_012920.1:g.1555A>G</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19297<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19297\"> </a></td><td>DNA-MT-TK(8344A>G)</td><td>DNA(spec.)—MT-TK gene(NC_012920.1:g.8344A>G); entitic num.(0 1 2) = ?</td><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TK-gen</td><td>NC_012920.1:g.8344A>G</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU19298<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU19298\"> </a></td><td>DNA-MT-TL1(3243A>G)</td><td>DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3243A>G); entitic num.(0 1 2) = ?</td><td>2013-01-25T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3243A>G</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57092<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57092\"> </a></td><td>DNA(B)-MT-TL1-gen (3243A>G)</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3243A>G); entitic num.(0 1 2) = ?</td><td>2017-03-01T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3243A>G</td><td>DNA</td><td>Blod</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57093<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57093\"> </a></td><td>DNA(B)-MT-ATP6-gen (8993T>G)</td><td>DNA(B)—MT-ATP6 gene(NC_012920.1:g.8993T>G); entitic num.(0 1 2) = ?</td><td>2017-03-01T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ATP6-gen</td><td>NC_012920.1:g.8993T>G</td><td>DNA</td><td>Blod</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57096<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57096\"> </a></td><td>DNA(B)-MT-TK-gen (8344A>G)</td><td>DNA(B)—MT-TK gene(NC_012920.1:g.8344A>G); entitic num.(0 1 2) = ?</td><td>2017-03-01T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TK-gen</td><td>NC_012920.1:g.8344A>G</td><td>DNA</td><td>Blod</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57605<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57605\"> </a></td><td>DNA-MT-TL1(3256C>T)</td><td>DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3256C>T); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3256C>T</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57612<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57612\"> </a></td><td>DNA-MT-TL1(3271T>C)</td><td>DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3271T>C); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3271T>C</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57613<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57613\"> </a></td><td>DNA-MT-CO1(7445A>G)</td><td>DNA(spec.)—MT-CO1 gene(NC_012920.1:g.7445A>G); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-CO1-gen</td><td>NC_012920.1:g.7445A>G</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57614<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57614\"> </a></td><td>DNA-MT-TS1(7471_7472insC)</td><td>DNA(spec.)—MT-TS1 gene(NC_012920.1:g.7471_7472insC); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TS1-gen</td><td>NC_012920.1:g.7471_7472insC</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57629<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57629\"> </a></td><td>DNA-MT-TK(8356T>C)</td><td>DNA(spec.)—MT-TK gene(NC_012920.1:g.8356T>C); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TK-gen</td><td>NC_012920.1:g.8356T>C</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57630<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57630\"> </a></td><td>DNA-MT-ND5(13513G>A)</td><td>DNA(spec.)—MT-ND5 gene(NC_012920.1:g.13513G>A); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND5-gen</td><td>NC_012920.1:g.13513G>A</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57631<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57631\"> </a></td><td>DNA-MT-ND6(14459G>A)</td><td>DNA(spec.)—MT-ND6 gene(NC_012920.1:g.14459G>A); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND6-gen</td><td>NC_012920.1:g.14459G>A</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57632<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57632\"> </a></td><td>DNA-MT-ND1(3460G>A)</td><td>DNA(spec.)—MT-ND1 gene(NC_012920.1:g.3460G>A); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND1-gen</td><td>NC_012920.1:g.3460G>A</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57633<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57633\"> </a></td><td>DNA-MT-ND4(11778G>A)</td><td>DNA(spec.)—MT-ND4 gene(NC_012920.1:g.11778G>A); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND4-gen</td><td>NC_012920.1:g.11778G>A</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57634<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57634\"> </a></td><td>DNA-MT-ND6(14484T>C)</td><td>DNA(spec.)—MT-ND6 gene(NC_012920.1:g.14484T>C); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND6-gen</td><td>NC_012920.1:g.14484T>C</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57635<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57635\"> </a></td><td>DNA-MT-ATP6(9185(T>C)</td><td>DNA(spec.)—MT-ND5 gene(NC_012920.1:g.9185T>C); entitic num.(0 1 2) = ?</td><td>2017-08-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ND5-gen</td><td>NC_012920.1:g.9185T>C</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57792<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57792\"> </a></td><td>DNA(B)-MT-TL1 gen(3252A>G)</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3252A>G); entitic num.(0 1 2) = ?</td><td>2017-10-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3252A>G</td><td>DNA</td><td>Blod</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU57803<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU57803\"> </a></td><td>DNA-MT-TL1 gen(3252A>G)</td><td>DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3252A>G); entitic num.(0 1 2) = ?</td><td>2018-02-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3252A>G</td><td>DNA</td><td>spesifikasjon</td><td>entitisk antall</td><td>0 1 2</td><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58187<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58187\"> </a></td><td>DNA-MT-TL1-gen</td><td>DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3271); seq.var. = ?</td><td>2018-03-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3271</td><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58188<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58188\"> </a></td><td>DNA-MT-TL1-gen</td><td>DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3252); seq.var. = ?</td><td>2018-03-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3252</td><td>DNA</td><td>spesifikasjon</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58190<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58190\"> </a></td><td>DNA(B)-MT-TL1-gen</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3252); seq.var. = ?</td><td>2018-03-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3252</td><td>DNA</td><td>Blod</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58191<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58191\"> </a></td><td>DNA(B)-MT-TL1-gen</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3271); seq.var. = ?</td><td>2018-03-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3271</td><td>DNA</td><td>Blod</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58206<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58206\"> </a></td><td>DNA(B)-MT-TL1-gen (3271T>C)</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3271T>C); arb.cont. = ?</td><td>2018-03-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3271T>C</td><td>DNA</td><td>Blod</td><td>arbitrært innhold</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58207<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58207\"> </a></td><td>DNA(B)-MT-TL1-gen (3252A>G)</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3252A>G); arb.cont. = ?</td><td>2018-03-23T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3252A>G</td><td>DNA</td><td>Blod</td><td>arbitrært innhold</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58269<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58269\"> </a></td><td>DNA(B)-MT-TL1-gen (3243A>G)</td><td>DNA(B)—MT-TL1 gene(NC_012920.1:g.3243A>G); arb.cont. = ?</td><td>2018-06-22T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td>NC_012920.1:g.3243A>G</td><td>DNA</td><td>Blod</td><td>arbitrært innhold</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58272<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58272\"> </a></td><td>DNA(B)-MT-TL1-gen</td><td>DNA(B)—MT-TL1 gene; seq.var. = ?</td><td>2018-06-22T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TL1-gen</td><td/><td>DNA</td><td>Blod</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58273<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58273\"> </a></td><td>DNA(B)-MT-TK-gen</td><td>DNA(B)—MT-TK gene; seq.var. = ?</td><td>2018-06-22T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-TK-gen</td><td/><td>DNA</td><td>Blod</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr><tr><td style=\"white-space:nowrap\">NPU58274<a name=\"norsk-laboratoriekodeverk-medical-genetics-NPU58274\"> </a></td><td>DNA(B)-MT-ATP6-gen</td><td>DNA(B)—MT-ATP6 gene; seq.var. = ?</td><td>2018-06-22T00:00:00+00:00</td><td/><td/><td>2024-11-23T00:00:00+00:00</td><td>MT-ATP6-gen</td><td/><td>DNA</td><td>Blod</td><td>sekvensvariasjon</td><td/><td>Medisinsk biokjemi</td><td>Medisinsk genetikk</td><td>Genetiske undersøkelser</td></tr></table></div>"
},
"url" : "http://hl7.no/fhir/ig/nlk-test/CodeSystem/norsk-laboratoriekodeverk-medical-genetics",
"version" : "0.2.2",
"name" : "NorskLaboratoriekodeverkMedicalGenetics",
"title" : "Norsk Laboratoriekodeverk - Medical Genetics",
"status" : "draft",
"experimental" : true,
"date" : "2025-09-24",
"publisher" : "Espen",
"contact" : [
{
"name" : "Espen",
"telecom" : [
{
"system" : "url",
"value" : "https://github.com/rockphotog/"
}
]
},
{
"name" : "Espen",
"telecom" : [
{
"system" : "url",
"value" : "https://github.com/rockphotog/"
}
]
}
],
"description" : "Norwegian Laboratory Codebook - Medical Genetics domain subset with complete metadata properties. Made as an example for NLK with detailed properties for each code.",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "NO",
"display" : "Norway"
}
]
}
],
"caseSensitive" : true,
"content" : "complete",
"count" : 103,
"property" : [
{
"code" : "validFrom",
"description" : "Valid from date",
"type" : "dateTime"
},
{
"code" : "validTo",
"description" : "Valid to date",
"type" : "dateTime"
},
{
"code" : "replacedBy",
"description" : "Code that replaces this code",
"type" : "code"
},
{
"code" : "changeDate",
"description" : "Date of last change",
"type" : "dateTime"
},
{
"code" : "codeDefinition",
"description" : "Technical code definition",
"type" : "string"
},
{
"code" : "component",
"description" : "Component being measured",
"type" : "string"
},
{
"code" : "componentSpec",
"description" : "Component specification",
"type" : "string"
},
{
"code" : "system",
"description" : "System/specimen type",
"type" : "string"
},
{
"code" : "systemSpec",
"description" : "System specification",
"type" : "string"
},
{
"code" : "propertyType",
"description" : "Type of property measured",
"type" : "string"
},
{
"code" : "propertySpec",
"description" : "Property specification",
"type" : "string"
},
{
"code" : "unit",
"description" : "Unit of measurement",
"type" : "string"
},
{
"code" : "primaryDomain",
"description" : "Primary medical domain",
"type" : "string"
},
{
"code" : "secondaryDomain",
"description" : "Secondary medical domain",
"type" : "string"
},
{
"code" : "grouping",
"description" : "Grouping category",
"type" : "string"
}
],
"concept" : [
{
"code" : "NOR15177",
"display" : "DNA-Mitokondriegenom-sekvensering",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2013-01-25T00:00:00+00:00"
},
{
"code" : "validTo",
"valueDateTime" : "2022-12-31T23:59:00+00:00"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk biokjemi"
}
]
},
{
"code" : "NOR25416",
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"valueDateTime" : "2018-12-31T23:59:00+00:00"
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{
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"valueString" : "Undersøkelse av genekspresjonsmønster"
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{
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"code" : "changeDate",
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{
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"code" : "propertySpec",
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"code" : "validTo",
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"code" : "changeDate",
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{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
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{
"code" : "primaryDomain",
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{
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"code" : "propertySpec",
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"code" : "validFrom",
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"code" : "changeDate",
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"code" : "system",
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"code" : "propertyType",
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{
"code" : "NOR25467",
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{
"code" : "propertyType",
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{
"code" : "propertySpec",
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{
"code" : "primaryDomain",
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"code" : "validTo",
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{
"code" : "NOR25469",
"display" : "DNA-Helgenomisk homozygositetsanalyse",
"property" : [
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"code" : "validFrom",
"valueDateTime" : "2013-01-25T00:00:00+00:00"
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{
"code" : "validTo",
"valueDateTime" : "2022-12-31T23:59:00+00:00"
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"code" : "validTo",
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"code" : "changeDate",
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{
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"property" : [
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"code" : "validFrom",
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{
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"display" : "DNA-Fragmentanalyse",
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"code" : "validFrom",
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"code" : "validFrom",
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"code" : "validTo",
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"code" : "validFrom",
"valueDateTime" : "2021-05-25T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Dyrkning og lagring av blodceller"
},
{
"code" : "system",
"valueString" : "Blod"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35245",
"display" : "RNA-NGS-transkriptom",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Neste generasjons sekvensering av hele transkriptomet"
},
{
"code" : "system",
"valueString" : "RNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
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},
{
"code" : "primaryDomain",
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}
]
},
{
"code" : "NOR35255",
"display" : "DNA-Anriket panel, NGS",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Neste generasjons sekvensering av flere gener for en gitt sykdom/syndrom (panel)"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35256",
"display" : "DNA-Heleksom, NGS",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Neste generasjons sekvensering av hele eksomet"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35257",
"display" : "DNA-Helgenom, NGS",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Neste generasjons sekvensering av hele genomet"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35258",
"display" : "Tolkning, 1-10 gener eller kjente varianter",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Tolkning av genpanel, 1-10 gener eller kjente varianter"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35259",
"display" : "Tolkning, 11-99 gener",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Tolkning av genpanel, 11-99 gener"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35260",
"display" : "Tolkning, over 100 gener",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Tolkning av genpanel, over 100 gener"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35261",
"display" : "Tolkning inkl. kopitall, 1-10 gener eller kjente varianter",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Tolkning av genpanel, inkludert kopitallsanalyse, 1-10 gener eller kjente varianter"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35262",
"display" : "Tolkning inkl. kopitall, 11-99 gener",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Tolkning av genpanel, inkludert kopitallsanalyse, 11-99 gener"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35263",
"display" : "Tolkning inkl. kopitall, over 100 gener",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Tolkning av genpanel, inkludert kopitallsanalyse, over 100 gener"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35264",
"display" : "Retolkning av en eller flere varianter",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Retolkning av en eller flere varianter"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35265",
"display" : "DNA-Heleksom, fam.ktr., NGS",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Neste generasjons sekvensering av hele eksomet, familiekontroll"
},
{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35266",
"display" : "DNA-Helgenom, fam.ktr., NGS",
"property" : [
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"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Neste generasjons sekvensering av hele genomet, familiekontroll"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35267",
"display" : "DNA-Helgenomisk kopitallsanalyse, ArrayCGH",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Helgenomisk analyse mtp kopitallsvariasjon vha Array comparative genomic hybridization"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35268",
"display" : "DNA-Helgenomisk kopitallsanalyse, SNParray",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Helgenomisk analyse mtp kopitallsvariasjon vha Single nucleotide polymorphism microarray"
},
{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
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{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35269",
"display" : "DNA-Helgenomisk kopitallsanalyse, fam.ktr., ArrayCGH",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Helgenomisk analyse mtp kopitallsvariasjon, familiekontroll, vha Array comparative genomic hybridization"
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{
"code" : "system",
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{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35270",
"display" : "DNA-Helgenomisk kopitallsanalyse, fam.ktr., SNParray",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Helgenomisk analyse mtp kopitallsvariasjon, familiekontroll, vha Single nucleotide polymorphism microarray"
},
{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
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{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35271",
"display" : "DNA-Helgenomisk metyleringsanalyse, NGS",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Helgenomisk metyleringsanalyse ved Neste generasjons sekvensering"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35272",
"display" : "DNA-Metyleringsprofilering, matrise",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Metyleringsprofilering, matrise"
},
{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35281",
"display" : "DNA-Digital dråpe PCR",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "Digital dråpe PCR"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
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]
},
{
"code" : "NOR35282",
"display" : "DNA-Optisk mapping sekvensering",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Optisk mapping sekvensering"
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{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
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]
},
{
"code" : "NOR35283",
"display" : "DNA-PGT Karyomapping, fam.ktr.",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Preimplantasjonstesting, Karyomapping for haplotyping og påvisning av genetisk sekvensvariant, familiekontroll"
},
{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35284",
"display" : "Ce-PGT Karyomapping, blastocyst",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Preimplantasjonstesting, Karyomapping for haplotyping og påvisning av genetisk sekvensvariant, blastocyst"
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{
"code" : "system",
"valueString" : "Celler"
},
{
"code" : "propertyType",
"valueString" : "takson"
},
{
"code" : "propertySpec",
"valueString" : "ISCN/HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
}
]
},
{
"code" : "NOR35285",
"display" : "DNA-PGT Helgenomisk kopitallsanalyse, fam.ktr.",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "Preimplantasjonstesting, Helgenomisk analyse mtp kopitallsvariasjon, familiekontroll"
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{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "propertyType",
"valueString" : "takson"
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{
"code" : "propertySpec",
"valueString" : "HGVS"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk genetikk"
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]
},
{
"code" : "NOR35286",
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"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
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{
"code" : "system",
"valueString" : "Celler"
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{
"code" : "propertyType",
"valueString" : "takson"
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{
"code" : "propertySpec",
"valueString" : "HGVS"
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{
"code" : "primaryDomain",
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]
},
{
"code" : "NOR35287",
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{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
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{
"code" : "system",
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{
"code" : "propertyType",
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{
"code" : "propertySpec",
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{
"code" : "primaryDomain",
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]
},
{
"code" : "NOR35288",
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"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2023-09-23T00:00:00+00:00"
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{
"code" : "component",
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{
"code" : "system",
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{
"code" : "propertyType",
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{
"code" : "propertySpec",
"valueString" : "HGVS"
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{
"code" : "primaryDomain",
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}
]
},
{
"code" : "NPU19142",
"display" : "DNA-MT-ATP6",
"definition" : "DNA(spec.)—MT-ATP6 gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2015-03-01T00:00:00+00:00"
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{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "MT-ATP6-gen"
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{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
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{
"code" : "propertyType",
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},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
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{
"code" : "grouping",
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}
]
},
{
"code" : "NPU19145",
"display" : "DNA-MT-ND4",
"definition" : "DNA(spec.)—MT-ND4 gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2013-01-25T00:00:00+00:00"
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{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
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{
"code" : "component",
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},
{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "systemSpec",
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{
"code" : "propertyType",
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},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
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},
{
"code" : "grouping",
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}
]
},
{
"code" : "NPU19148",
"display" : "DNA-MT-TK",
"definition" : "DNA(spec.)—MT-TK gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2015-03-01T00:00:00+00:00"
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{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
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{
"code" : "component",
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},
{
"code" : "system",
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{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
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{
"code" : "propertyType",
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{
"code" : "primaryDomain",
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{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
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]
},
{
"code" : "NPU19149",
"display" : "DNA-MT-TL1",
"definition" : "DNA(spec.)—MT-TL1 gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2015-03-01T00:00:00+00:00"
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{
"code" : "changeDate",
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{
"code" : "component",
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{
"code" : "system",
"valueString" : "DNA"
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{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
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{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU19179",
"display" : "DNA-PYGM-gen",
"definition" : "DNA(spec.)—PYGM gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2022-11-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "PYGM-gen"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU19293",
"display" : "DNA-MT-ATP6(8993T>G, Leu156Arg)",
"definition" : "DNA(spec.)—MT-ATP6 gene(NC_012920.1:g.8993T>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2013-01-25T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ATP6-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.8993T>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU19294",
"display" : "DNA-MT-ATP6(8993T>C)",
"definition" : "DNA(spec.)—MT-ATP6 gene(NC_012920.1:g.8993T>C); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ATP6-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.8993T>C"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU19296",
"display" : "DNA-MT-RNR1(1555A>G)",
"definition" : "DNA(spec.)—MT-RNR1 gene(NC_012920.1:g.1555A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-RNR1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.1555A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU19297",
"display" : "DNA-MT-TK(8344A>G)",
"definition" : "DNA(spec.)—MT-TK gene(NC_012920.1:g.8344A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2013-01-25T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TK-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.8344A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU19298",
"display" : "DNA-MT-TL1(3243A>G)",
"definition" : "DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3243A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2013-01-25T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3243A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57092",
"display" : "DNA(B)-MT-TL1-gen (3243A>G)",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3243A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-03-01T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3243A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57093",
"display" : "DNA(B)-MT-ATP6-gen (8993T>G)",
"definition" : "DNA(B)—MT-ATP6 gene(NC_012920.1:g.8993T>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-03-01T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ATP6-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.8993T>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57096",
"display" : "DNA(B)-MT-TK-gen (8344A>G)",
"definition" : "DNA(B)—MT-TK gene(NC_012920.1:g.8344A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-03-01T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TK-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.8344A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57605",
"display" : "DNA-MT-TL1(3256C>T)",
"definition" : "DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3256C>T); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3256C>T"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57612",
"display" : "DNA-MT-TL1(3271T>C)",
"definition" : "DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3271T>C); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3271T>C"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57613",
"display" : "DNA-MT-CO1(7445A>G)",
"definition" : "DNA(spec.)—MT-CO1 gene(NC_012920.1:g.7445A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-CO1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.7445A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57614",
"display" : "DNA-MT-TS1(7471_7472insC)",
"definition" : "DNA(spec.)—MT-TS1 gene(NC_012920.1:g.7471_7472insC); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TS1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.7471_7472insC"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57629",
"display" : "DNA-MT-TK(8356T>C)",
"definition" : "DNA(spec.)—MT-TK gene(NC_012920.1:g.8356T>C); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TK-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.8356T>C"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57630",
"display" : "DNA-MT-ND5(13513G>A)",
"definition" : "DNA(spec.)—MT-ND5 gene(NC_012920.1:g.13513G>A); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ND5-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.13513G>A"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57631",
"display" : "DNA-MT-ND6(14459G>A)",
"definition" : "DNA(spec.)—MT-ND6 gene(NC_012920.1:g.14459G>A); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ND6-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.14459G>A"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57632",
"display" : "DNA-MT-ND1(3460G>A)",
"definition" : "DNA(spec.)—MT-ND1 gene(NC_012920.1:g.3460G>A); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ND1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3460G>A"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57633",
"display" : "DNA-MT-ND4(11778G>A)",
"definition" : "DNA(spec.)—MT-ND4 gene(NC_012920.1:g.11778G>A); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ND4-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.11778G>A"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57634",
"display" : "DNA-MT-ND6(14484T>C)",
"definition" : "DNA(spec.)—MT-ND6 gene(NC_012920.1:g.14484T>C); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ND6-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.14484T>C"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57635",
"display" : "DNA-MT-ATP6(9185(T>C)",
"definition" : "DNA(spec.)—MT-ND5 gene(NC_012920.1:g.9185T>C); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-08-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ND5-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.9185T>C"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57792",
"display" : "DNA(B)-MT-TL1 gen(3252A>G)",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3252A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2017-10-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3252A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU57803",
"display" : "DNA-MT-TL1 gen(3252A>G)",
"definition" : "DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3252A>G); entitic num.(0 1 2) = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-02-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3252A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "entitisk antall"
},
{
"code" : "propertySpec",
"valueString" : "0 1 2"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58187",
"display" : "DNA-MT-TL1-gen",
"definition" : "DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3271); seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3271"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58188",
"display" : "DNA-MT-TL1-gen",
"definition" : "DNA(spec.)—MT-TL1 gene(NC_012920.1:g.3252); seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3252"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "spesifikasjon"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58190",
"display" : "DNA(B)-MT-TL1-gen",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3252); seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3252"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58191",
"display" : "DNA(B)-MT-TL1-gen",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3271); seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3271"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58206",
"display" : "DNA(B)-MT-TL1-gen (3271T>C)",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3271T>C); arb.cont. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3271T>C"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "arbitrært innhold"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58207",
"display" : "DNA(B)-MT-TL1-gen (3252A>G)",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3252A>G); arb.cont. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-03-23T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3252A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "arbitrært innhold"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58269",
"display" : "DNA(B)-MT-TL1-gen (3243A>G)",
"definition" : "DNA(B)—MT-TL1 gene(NC_012920.1:g.3243A>G); arb.cont. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-06-22T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
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{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "componentSpec",
"valueString" : "NC_012920.1:g.3243A>G"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "arbitrært innhold"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58272",
"display" : "DNA(B)-MT-TL1-gen",
"definition" : "DNA(B)—MT-TL1 gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-06-22T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TL1-gen"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58273",
"display" : "DNA(B)-MT-TK-gen",
"definition" : "DNA(B)—MT-TK gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-06-22T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-TK-gen"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
},
{
"code" : "NPU58274",
"display" : "DNA(B)-MT-ATP6-gen",
"definition" : "DNA(B)—MT-ATP6 gene; seq.var. = ?",
"property" : [
{
"code" : "validFrom",
"valueDateTime" : "2018-06-22T00:00:00+00:00"
},
{
"code" : "changeDate",
"valueDateTime" : "2024-11-23T00:00:00+00:00"
},
{
"code" : "component",
"valueString" : "MT-ATP6-gen"
},
{
"code" : "system",
"valueString" : "DNA"
},
{
"code" : "systemSpec",
"valueString" : "Blod"
},
{
"code" : "propertyType",
"valueString" : "sekvensvariasjon"
},
{
"code" : "primaryDomain",
"valueString" : "Medisinsk biokjemi"
},
{
"code" : "secondaryDomain",
"valueString" : "Medisinsk genetikk"
},
{
"code" : "grouping",
"valueString" : "Genetiske undersøkelser"
}
]
}
]
}