72728-9

Del(13)(q14) [Identifier] in Blood or Tissue by FISH Nominal

Active

Term Description

Deletions at 13q14 can be detected by FISH and used for the diagnosis of chronic lymphocytic leukemia (CLL), multiple myeloma, non-Hodgkin's lymphoma (NHL) as well as other forms of cancer. This code is based, but not limited to, Kreatech Diagnostic's DLEU (13q14) probe to detect copy numbers of the DLEU gene region at 13q14. Labs often report the X number of cells that have the probe deletion out of Y number of cells (e.g. 80 out of 100 cells, or 80%). Results are typically reported in ISCN (International System for Human Cytogenetic Nomenclature) format.

Part Descriptions

LP157582-0   Del(13)(q14)
FISH studies are commonly used to identify deletions of chromosome 13q14 and 17p13, which are known to cause chronic lymphocytic leukemia (CLL). Deletion of 13q14 is the most common chromosomal aberration in CLL and correlated with favorable prognosis. Deletion of 17p13 affects the p53 tumor suppressor gene (TP53) and has been associated with disease progression and reduced survival. Identification of these deletions is useful for choosing appropriate therapy for patients. For example, patients with deletions at 17p13 are resistant to standard therapies, such as fludarabine, but will likely benefit from more aggressive therapies, such as bone marrow transplantation.

Conventional cytogenetics (e.g. karyotyping) detects up to 50% of chromosomal aberrations whereas FISH methods detect up to 80% in patients with CLL. Urbankova, et al. (2012) showed that a subset of potentially significant genomic aberrations in CLL is being missed by cytogenetics and FISH. They demonstrated that arrayCGH analysis is robust, highly sensitive and specific and might be useful in routine screening of CLL. Urbankova, et al., suggested using a combination of conventional cytogentics, FISH and arrayCGH to determine the molecular karyotype of CLL since it is an important indicator of disease prognosis. Source: Regenstrief LOINC, PMID: 23073527

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. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

LOINC Names Get Info

Fully-Specified Name

Del(13)(q14):Prid:Pt:Bld/Tiss:Nom:FISH

Long Common Name

Del(13)(q14) [Identifier] in Blood or Tissue by FISH Nominal

Short Name

Del(13)(q14) Bld/T FISH

Display Name

Del(13)(q14) FISH Nom (Bld/Tiss)

Consumer Name Alpha Get Info

Del(13)(q14), Blood or tissue specimen

Part Model Get Info

• Component

  Del(13)(q14)
  LP157582-0

  • Analyte

    Del(13)(q14)
    LP157582-0

    • Component Numerator

      Del(13)(q14)
      LP157582-0

      • Component Numerator Core

        Del(13)(q14)
        LP157582-0

      • Component Numerator Core Suffix

        NULL
         

    • Component Denominator

      NULL
       

      • Component Denominator Core

        NULL
         

      • Component Denominator Core Suffix

        NULL
         

  • Challenge

    NULL
     

  • Adjustment

    NULL
     

  • Count

    NULL
     

• Property

  Prid
  LP6850-4

• Time

  Pt
  LP6960-1

  • Time Core

    Pt
    LP6960-1

  • Time Modifier

    NULL
     

• System

  Bld/Tiss
  LP7061-7

  • System Core

    Bld/Tiss
    LP7061-7

  • Super System

    NULL
     

• Scale

  Nom
  LP7750-5

• Method

  FISH
  LP62864-1

Example Answer List: LL2358-1

Basic Attributes

Class

MOLPATH.DEL

Type

Laboratory

First Released

Version 2.42

Last Updated

Version 2.61 (MIN)

Order vs. Observation

Both

Member of these Panels

Language Variants Get Info

Related Names

• Blood
• Chronic lymphocytic leukemia
• CLL
• Fluorescent in situ hybridization
• Genetics
• Heredity
• Heritable
• Identity or presence
• Inherited
• Molecular pathology
• MOLPATH
• MOLPATH.DELETIONS
• Nominal
• Point in time
• Random
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=72728-9

LOINC Copyright

Copyright © 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://loinc.org/license for the full LOINC copyright and license.