73750-2LOINC 2.82
RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
RAI1 17p11.2 Del+Dup Bld/T FISH
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.
Component
- RAI1 gene 17p11.2 deletion+duplication
Specimen / system
- Bld/Tiss
Class
- MOLPATH.DEL
Property
- Prid
Scale
- Nom
Method
- FISH
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
Index terms
- 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
- RAI1 gene 17p11.2 deletion+duplication
- Random
- Retinoic acid induced 1
- SMCR
- SMS
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue