79416-4
MLH1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Active
Term Description
Deletion/duplication testing for MLH1 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full MLH1 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
Source: Regenstrief LOINC
Part Description
LP34683-0 MLH1 gene
The MLH1 gene (mutL homolog 1) [HGNC Gene ID:7127] is located on chromosome 3p21.3. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome. It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] [NCBI Gene ID:4292]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MLH1 gene deletion+duplication
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- MLPA
Additional Names
- Short Name
- MLH1 gene Del+Dup Bld/T MLPA
- Display Name
- MLH1 gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MLH1 gene deletion/duplication 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 | |||
Indent Indent53577-3 | Reason for study | O | 0..* | |
Indent Indent51967-8 | Genetic disease assessed [ID] | O | 0..* | |
Indent Indent51963-7 | Medication assessed [ID] | C | 0..* | |
Indent Indent48018-6 | Gene studied [ID] | C | 0..* | |
Indent Indent36908-2 | Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | C | 0..* | |
Indent Indent51959-5 | Range(s) of DNA sequence examined | C | 0..* | |
Indent Indent81293-3 | Description of ranges of DNA sequences examined | C | 0..1 | |
Indent Indent51968-6 | Discrete variation analysis overall interpretation | R | 1..1 | |
Indent Indent83006-7 | Deletion-duplication overall interpretation | C | ||
Indent Indent51969-4 | Genetic analysis report | O | 0..1 | |
Indent Indent81291-7 | Variant ISCN | C | ||
Indent Indent62374-4 | Human reference sequence assembly version | C | 0..1 | |
Indent Indent81303-0 | HGVS version [ID] | O | 0..1 | |
Indent Indent82115-7 | dbSNP version [ID] | O | 0..1 | |
Indent Indent83007-5 | COSMIC version [ID] | O | ||
Indent Indent83008-3 | ClinVar version [ID] | O | ||
Indent81250-3 | Discrete genetic variant panel | 0..n | ||
Indent Indent83005-9 | Variant category | |||
Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
Indent Indent48019-4 | DNA change type | O | 0..1 | |
Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
Indent Indent84414-2 | Haplotype name | O | ||
Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
Indent Indent81304-8 | Variant analysis method [Type] | O | ||
Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
Indent Indent69548-6 | Genetic variant assessment | O | ||
Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
Indent Indent53034-5 | Allelic state | C | 0..1 | |
Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
Indent Indent82120-7 | Allelic phase | O | 0..1 | |
Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
Indent81297-4 | Structural variant panel | |||
Indent Indent82155-3 | Genomic structural variant copy number | {#} | ||
Indent Indent81299-0 | Structural variant reported arrCGH [Ratio] | C | 0..1 | {Ratio} |
Indent Indent81300-6 | Structural variant [Length] | O | 0..1 | {#} |
Indent Indent81301-4 | Structural variant outer start and end | O | 0..1 | {Range} |
Indent Indent81302-2 | Structural variant inner start and end | O | 0..1 | {Range} |
Indent81251-1 | Complex genetic variant panel | 0..n | ||
Indent Indent81260-2 | Complex genetic variant [ID] | C | 0..1 | |
Indent Indent81262-8 | Complex variant HGVS name | C | 0..1 | |
Indent Indent81263-6 | Complex variant type | C | 0..1 | |
Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
Indent Indent53034-5 | Allelic state | O | 0..1 | |
Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
Indent Indent81250-3 | Discrete genetic variant panel | 0..n | ||
Indent Indent Indent83005-9 | Variant category | |||
Indent Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
Indent Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
Indent Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
Indent Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
Indent Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
Indent Indent Indent48019-4 | DNA change type | O | 0..1 | |
Indent Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
Indent Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
Indent Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
Indent Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
Indent Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
Indent Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
Indent Indent Indent84414-2 | Haplotype name | O | ||
Indent Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
Indent Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
Indent Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
Indent Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
Indent Indent Indent81304-8 | Variant analysis method [Type] | O | ||
Indent Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
Indent Indent Indent69548-6 | Genetic variant assessment | O | ||
Indent Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
Indent Indent Indent53034-5 | Allelic state | C | 0..1 | |
Indent Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
Indent Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
Indent Indent Indent82120-7 | Allelic phase | O | 0..1 | |
Indent Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
Indent82118-1 | Pharmacogenomics result panel | |||
Indent Indent48018-6 | Gene studied [ID] | 1..* | ||
Indent Indent84413-4 | Genotype display name | |||
Indent Indent53040-2 | Genetic variation's effect on drug metabolism | C | 0..1 | |
Indent Indent51961-1 | Genetic variation's effect on drug efficacy | C | 0..1 | |
Indent Indent83009-1 | Genetic variation's effect on high-risk allele | |||
Indent Indent82117-3 | Medication usage implications panel | O | 0..* | |
Indent Indent Indent51963-7 | Medication assessed [ID] | R | 1..* | |
Indent Indent Indent82116-5 | Medication usage suggestion [Type] | C | 1..1 | |
Indent Indent Indent83010-9 | Medication usage suggestion [Narrative] | C | ||
Indent83011-7 | Haplotype definition panel | |||
Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
Indent Indent84414-2 | Haplotype name | O | ||
Indent Indent81250-3 | Discrete genetic variant panel | 0..n | ||
Indent Indent Indent83005-9 | Variant category | |||
Indent Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
Indent Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
Indent Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
Indent Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
Indent Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
Indent Indent Indent48019-4 | DNA change type | O | 0..1 | |
Indent Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
Indent Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
Indent Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
Indent Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
Indent Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
Indent Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
Indent Indent Indent84414-2 | Haplotype name | O | ||
Indent Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
Indent Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
Indent Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
Indent Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
Indent Indent Indent81304-8 | Variant analysis method [Type] | O | ||
Indent Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
Indent Indent Indent69548-6 | Genetic variant assessment | O | ||
Indent Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
Indent Indent Indent53034-5 | Allelic state | C | 0..1 | |
Indent Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
Indent Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
Indent Indent Indent82120-7 | Allelic phase | O | 0..1 | |
Indent Indent Indent82309-6 | Basis for allelic phase [Type] | O |
Basic Attributes
- Class
- MOLPATH.DELDUP
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.65
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen MLH1 Delección+duplicación: |
es-MX | Spanish (Mexico) | Deleción + duplicación del gen MLH1: |
fr-FR | French (France) | MLH1 gène délétion+duplication: |
it-IT | Italian (Italy) | MLH1, gene Delezione+duplicazione: Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Delezione o duplicazione genica Gene MLH1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
tr-TR | Turkish (Turkey) | MLH1 geni delesyon+duplikasyon: Synonyms: çiftleme |
zh-CN | Chinese (China) | MLH1 基因 缺失+重复: Synonyms: COCA2; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=79416-4
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