80186-0

JAK2 gene exon 12 targeted mutation analysis in Bone marrow by Molecular genetics method

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Part Descriptions

LP228747-4 JAK2 gene exon 12 targeted mutation analysis
Mutations in the Janus kinase 2 (JAK2) gene exon 12 are present in significant numbers of patients with myeloproliferative neoplasias (MPNs). MPNs are distinguished by having clones of malignant cells that are derived from an unrestricted proliferation of hematopoietic progenitors. In patients with MPN, excessive numbers of mature and functional blood cells are produced. Mutations that interfere with the signaling of protein tyrosine kinase are also thought to play a role in MPNs. PMID: 19074595 Source: Regenstrief LOINC

LP94512-8 JAK2 gene exon 12
The JAK2 gene is located on chromosome 9p24. Mutations in exon 12 of the JAK2 gene are present in patients with a distinctive myeloproliferative syndrome. These patients display a clinical phenotype and bone marrow histologic findings which differ from those observed in V617F-positive patients. In most cases they have marked erythrocytosis, absence of leukocytosis or thrombocytosis, low serum erythropoietin levels and isolated erythroid hyperplasia in the bone marrow. PMID: 7267906 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: JAK2 gene exon 12 targeted mutation analysis:Find:Pt:Bone mar:Doc:Molgen
Long Common Name: JAK2 gene exon 12 targeted mutation analysis in Bone marrow by Molecular genetics method
Short Name: JAK2 exon 12 Mut Anl Mar
Display Name: JAK2 gene exon 12 targeted mutation analysis Molgen Doc (BM)
Consumer Name Alpha Get Info: JAK2 gene Exon 12 targeted mutation analysis, Bone marrow

Part Model Get Info

Component
JAK2 gene exon 12 targeted mutation analysis
LP228747-4
- Analyte
  JAK2 gene exon 12 targeted mutation analysis
  LP228747-4
  - Component Numerator
    JAK2 gene exon 12 targeted mutation analysis
    LP228747-4
    - Component Numerator Core
      JAK2 gene exon 12
      LP94512-8
    - Component Numerator Core Suffix
      targeted mutation analysis
      LP32419-1
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bone mar
LP7410-6
- System Core
  Bone mar
  LP7410-6
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

Associated Observations

81247-9 Master HL7 genetic variant reporting panel

LOINC	Name	R/O/C	Cardinality	Example UCUM Units
81247-9	Master HL7 genetic variant reporting panel
Indent81306-3	Variables that apply to the overall study
IndentIndent53577-3	Reason for study	O	0..*
IndentIndent51967-8	Genetic disease assessed [ID]	O	0..*
IndentIndent51963-7	Medication assessed [ID]	C	0..*
IndentIndent48018-6	Gene studied [ID]	C	0..*
IndentIndent36908-2	Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal	C	0..*
IndentIndent51959-5	Range(s) of DNA sequence examined	C	0..*
IndentIndent81293-3	Description of ranges of DNA sequences examined	C	0..1
IndentIndent51968-6	Discrete variation analysis overall interpretation	R	1..1
IndentIndent83006-7	Deletion-duplication overall interpretation	C
IndentIndent51969-4	Genetic analysis report	O	0..1
IndentIndent81291-7	Variant ISCN	C
IndentIndent62374-4	Human reference sequence assembly version	C	0..1
IndentIndent81303-0	HGVS version [ID]	O	0..1
IndentIndent82115-7	dbSNP version [ID]	O	0..1
IndentIndent83007-5	COSMIC version [ID]	O
IndentIndent83008-3	ClinVar version [ID]	O
Indent81250-3	Discrete genetic variant panel		0..n
IndentIndent83005-9	Variant category
IndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndent48019-4	DNA change type	O	0..1
IndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndent81304-8	Variant analysis method [Type]	O
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent69548-6	Genetic variant assessment	O
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53034-5	Allelic state	C	0..1
IndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndent82120-7	Allelic phase	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
Indent81297-4	Structural variant panel
IndentIndent82155-3	Genomic structural variant copy number			{#}
IndentIndent81299-0	Structural variant reported arrCGH [Ratio]	C	0..1	{Ratio}
IndentIndent81300-6	Structural variant [Length]	O	0..1	{#}
IndentIndent81301-4	Structural variant outer start and end	O	0..1	{Range}
IndentIndent81302-2	Structural variant inner start and end	O	0..1	{Range}
Indent81251-1	Complex genetic variant panel		0..n
IndentIndent81260-2	Complex genetic variant [ID]	C	0..1
IndentIndent81262-8	Complex variant HGVS name	C	0..1
IndentIndent81263-6	Complex variant type	C	0..1
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent53034-5	Allelic state	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O
Indent82118-1	Pharmacogenomics result panel
IndentIndent48018-6	Gene studied [ID]		1..*
IndentIndent84413-4	Genotype display name
IndentIndent53040-2	Genetic variation's effect on drug metabolism	C	0..1
IndentIndent51961-1	Genetic variation's effect on drug efficacy	C	0..1
IndentIndent83009-1	Genetic variation's effect on high-risk allele
IndentIndent82117-3	Medication usage implications panel	O	0..*
IndentIndentIndent51963-7	Medication assessed [ID]	R	1..*
IndentIndentIndent82116-5	Medication usage suggestion [Type]	C	1..1
IndentIndentIndent83010-9	Medication usage suggestion [Narrative]	C
Indent83011-7	Haplotype definition panel
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.65 (MIN)
Change Reason: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen JAK2 exon 12 cílená mutační analýza:Nález:Časový bod:Kostní dřeň:Dokument:Molekulární genetika
de-AT	German (Austria)	Synonyms: JAK2 Exon 12 Mutationsanalyse /KM
el-GR	Greek (Greece)	Γονίδιο JAK2 εξώνιο 12 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Μυελός των οστών:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.MUT Pt Γονίδιο Γονίδιο JAK2 Γονίδιο JAK2 εξώνιο 12 Εύρεση Μοριακή γενετική Μυελός των οστών Οστό στοχευμένη ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	Gen JAK2 exon 12 Analisis de mutaciones:Hallazgo:Punto temporal:Médula ósea:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al exón 12 del gen JAK2:Hallazgo:Punto temporal:Médula ósea:Documento:Genética molecular
fr-CA	French (Canada)	Gène JAK2 exon 12 ciblé, analyse de la mutation:Observation:Temps ponctuel:Moelle osseuse:Document:Molgen
fr-FR	French (France)	JAK2 gène exon 12 mutation cible trouvée:Recherche:Ponctuel:Moelle osseuse:Document:Biologie moléculaire
it-IT	Italian (Italy)	JAK2, esone 12 del gene analisi di mutazione mirata:Osservazione:Pt:Mid oss:Doc:Molgen Synonyms: Esone 12 del gene JAK2 Gene JAK2 Genetica molecolare Midollo osseo Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	JAK2-gen exon 12 doelgerichte mutatie-analyse:bevinding:moment:beenmerg:document:moleculair genetisch onderzoek Synonyms: JAK2 gen JAK2 gen exon 12 molgen targeted
pl-PL	Polish (Poland)	JAK2 gen ekson 12 ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:szpik kostny:dokument:genetyka molekularna Synonyms: Analiza mutacji w eksonie 12 genu JAK2 diagnostyka molekularna Ekson 12 genu JAK2 Gen JAK2
ru-RU	Russian (Russian Federation)	JAK2 ген экзон 12 исследование на мутацию:Находка:ТчкВрм:Костный мозг:Док:МолГен Synonyms: Документ Точка во времени;Момент
tr-TR	Turkish (Turkey)	JAK2 geni ekzon 12 Mutasyon analizi:Bulgu:Zmlı:Kem il:Dokm:Molgen
zh-CN	Chinese (China)	JAK2 基因外显子 12 突变分析:发现:时间点:骨髓:文档型:分子遗传学类实验室方法 Synonyms: Janus 激酶 2 基因;PV;两面神激酶 2 基因;坚纽斯激酶 2 基因;奥斯勒氏病;杰纳斯激酶 2 基因;真性多血症;真性红细胞增多症;真性红血球增多症;红细胞增多;红细胞增多症;红血球增多症;脾大性红细胞增多;脾大性红细胞增多（Polycythemia vera，PV，奥斯勒氏病）;脾大性红细胞增多症临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;随机;随意;瞬间遗传基因;遗传因子;吉恩;生物基因骨骼;骨头髓

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.