73750-2
LaboratoryRAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
Definition
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.
LOINC 6-Axis Classification
Component
RAI1 gene 17p11.2 deletion+duplication
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
FISH
Details
Class
MOLPATH.DEL
Order/Observation
Both
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)
Related Names
Frequently Asked Questions
What is LOINC code 73750-2?
LOINC code 73750-2 identifies "RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal". 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.
What does 73750-2 measure?
This code measures RAI1 gene 17p11.2 deletion+duplication in Bld/Tiss. It belongs to the MOLPATH.DEL class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.