79417-2
PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Active
Term Description
Deletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
Part Description
LP199719-8 PMS2 gene
The PMS2 gene (PMS1 homolog 2, mismatch repair system component) [HGNC Gene ID:9122] is located on chromosome 7p22.1. This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer (also known as Lynch syndrome), Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID: 5395]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PMS2 gene deletion+duplication
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- MLPA
Additional Names
- Long Common Name
- PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
- Short Name
- PMS2 gene Del+Dup Bld/T MLPA
- Display Name
- PMS2 gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- PMS2 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 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο PMS2 διαγραφή+διπλασιασμός: Synonyms: Γονίδιο Γονίδιο PMS2 Εύρεση |
| es-ES | Spanish (Spain) | Gen PMS2 Delección+duplicación: |
| es-MX | Spanish (Mexico) | Deleción + duplicación del gen PMS2: |
| fr-FR | French (France) | PMS2 gène délétion+duplication: |
| it-IT | Italian (Italy) | PMS2, gene Delezione+duplicazione: Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Delezione o duplicazione genica Gene PMS2 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| tr-TR | Turkish (Turkey) | PMS2 geni delesyon+duplikasyon: |
| zh-CN | Chinese (China) | PMS2 基因 缺失+重复: Synonyms: multiplex ligation-dependent probe amplification; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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