50020-7
Microdeletion syndromes in Blood or Tissue by FISH
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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
LP63613-1 Microdeletion syndromes
Microdeletions are missing pieces of DNA that are beyond the resolution of routine cytogenetic techniques. Specific microdeletions are diagnostic of several clinical syndromes. Examples are Cri-du-chat, DiGeorge/Velocardiofacial syndrome, Kallman syndrome, Miller-Dieker syndrome, Prader-Willi syndrome (PWS), Smith-Magenis syndrome, Steroid sulfatase deficiency (x-linked Ichthyosis), Williams syndrome, Wolf-Hirschhorn syndrome, and Y Chromosome microdeletions.
Source: Regenstrief Institute
Fully-Specified Name
- Component
- Microdeletion syndromes
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- FISH
Additional Names
- Long Common Name
- Microdeletion syndromes in Blood or Tissue by FISH
- Short Name
- Microdeletion synd Bld/T FISH
- Display Name
- Microdel syndromes FISH Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- Microdel syndromes, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73 (MIN)
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 13052
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Σύνδρομα μικροδιαγραφής: Synonyms: Εύρεση Σύνδρομα μικροδιαγραφής |
| es-ES | Spanish (Spain) | Síndromes por microdeleción: |
| es-MX | Spanish (Mexico) | Síndromes de microdeleción: |
| fr-FR | French (France) | Syndromes de microdélétion: |
| it-IT | Italian (Italy) | Microdelezioni, sindromi: Synonyms: Delezione genetica Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Sindromi da microdelezioni Tessuto & |
| nl-NL | Dutch (Netherlands) | microdeletie syndromen: |
| pt-BR | Portuguese (Brazil) | Sindromes de microdeleção: Synonyms: ; |
| tr-TR | Turkish (Turkey) | Mikrodelesyon sendromları: |
| zh-CN | Chinese (China) | 微缺失综合征: 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=50020-7
LOINC Copyright
Copyright © 2025 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://