Version 2.80

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP188489-1   ALPL gene
The ALPL gene (alkaline phosphatase, liver/bone/kidney) [HGNC Gene ID:438] is located on chromosome 1p36.12. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] [NCBI Gene ID:249] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
ALPL gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
ALPL gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
ALPL Full Mut Anl Bld/T Seq
Display Name
ALPL gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
ALPL gene variant analysis, Blood or tissue specimen

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 2.52
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Both
Common Test Rank Get Info
18616

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο ALPL πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο ALPL Εύρεση
es-ES Spanish (Spain) Gen ALPL Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen ALPL:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) ALPL gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) ALPL, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene ALPL Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) ALPL-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: ALPL gen
tr-TR Turkish (Turkey) ALPL geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) ALPL 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 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 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 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 肝/骨/肾型碱性磷酸酯酶;碱性磷酸酯酶, 肝/骨/肾型;Alkaline Phosphatase, Liver/Bone/Kidney 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77084-2