73750-2

RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal

Active

Term Description

FISH studies are performed using an SMS probe to detect a deletion or duplication within the critical region of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2. FISH signal pattern indicating a loss of the RAI1 critical region is consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. The answer list provided with this code is an example and not meant to include all possible results.
Source: Regenstrief LOINC

Part Descriptions

LP172693-6   RAI1 gene 17p11.2
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC, PMID: 18373405

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

Fully-Specified Name

Component

RAI1 gene 17p11.2 deletion+duplication

Property

Prid

Time

Pt

System

Bld/Tiss

Scale

Nom

Method

FISH

Additional Names

Long Common Name

RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal

Short Name

RAI1 17p11.2 Del+Dup Bld/T FISH

Display Name

RAI1 gene 17p11.2 del and dup mutation analysis FISH Nom (Bld/Tiss)

Consumer Name Alpha Get Info

RAI1 gene 17p11.2 deletion/duplication analysis, Blood or tissue specimen

Example Answer List: LL2484-5

Basic Attributes

Class

MOLPATH.DEL

Type

Laboratory

First Released

Version 2.44

Last Updated

Version 2.61

Order vs. Observation

Both

Language Variants Get Info

Related Names

• Amplification
• Blood
• Del
• Del+Dup
• Deletions
• Dp
• Fluorescent in situ hybridization
• Genetics
• Heredity
• Heritable
• Identity or presence
• Inherited
• Molecular pathology
• MOLPATH
• MOLPATH.DELETIONS
• Nominal
• Point in time
• Random
• Retinoic acid induced 1
• SMCR
• SMS
• 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=73750-2

LOINC Copyright

Copyright © 2024 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.