49040-9
Subtelomere analysis [Interpretation] in Blood or Tissue by FISH Narrative
Active
Part Descriptions
LP62864-1 FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues.
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Source: Wikipedia, FISH
LP63620-6 Subtelomere analysis
Test to examine the ends of all chromosomes for deletions or rearrangements.
Source: Regenstrief Institute
LP63620-6 Subtelomere analysis
Telomeres are DNA-protein structures located at the end of each chromosome and containing long stretches of (TTAGGG) in repeats of variable length (3-20kb). They protect chromosomes from deterioration and prevent fusion with other chromosomes. The region adjacent to the telomeric repeats is called the subtelomere, which also contains segments of repetitive stretches of DNA. Subtelomeres are found to be relatively gene-rich due to frequent duplication and recombination events. Deletions and rearrangements in subtelomere regions have been associated with mental retardation and congenital abnormalities. Cytogenetic analysis of subtelomeres is difficult due to low resolution using conventional banding techniques. FISH probes specific for subtelomeric regions on both the long and short arms of chromosomes are useful for detecting subtle rearrangements.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Subtelomere analysis
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nar
- Method
- FISH
Additional Names
- Short Name
- Subtelomere analysis Bld/T FISH-Imp
- Display Name
- Subtelomere analysis FISH Nar (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Subtelomere analysis test result, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14846
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Análisis subtelomérico: |
| es-MX | Spanish (Mexico) | Análisis de subtelómeros: |
| fr-FR | French (France) | Subtélomère analyse: |
| it-IT | Italian (Italy) | Analisi subtelomerica: Synonyms: Ibridazione in situ fluorescente (FISH) Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | subtelomeer analyse: |
| pt-BR | Portuguese (Brazil) | Análise subtelomero: Synonyms: Interpretation; |
| tr-TR | Turkish (Turkey) | Alt telomer analizi: |
| zh-CN | Chinese (China) | 亚端粒分析: Synonyms: Fluorescent in situ hybridization; |
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=49040-9
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright