95551-8LOINC 2.82
Chromosome region 17p11.2 deletion in Blood or Tissue by FISH
Chr 17p11.2 Del Bld/T FISH
Definition
- FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion 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. LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).
Component
- Chromosome region 17p11.2 deletion
Specimen / system
- Bld/Tiss
Class
- MOLPATH.DELDUP
Property
- Find
Scale
- Doc
Method
- FISH
Related names
- Blood; Chr 17p11.2; Chr 17p11.2 deletion; Chromosom; Chromosomes; Cyto loc; Del; Deletions; Document; Finding; Findings; Fluorescent in situ hybridization; Molecular pathology; MOLPATH; MOLPATH.DELDUP; Point in time; Potocki-Lupski syndrome; PTLS; RAI1; Random; Smith-Magenis syndrome; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Chr 17p11.2
- Chr 17p11.2 deletion
- Chromosom
- Chromosomes
- Cyto loc
- Del
- Deletions
- Document
- Finding
- Findings
- Fluorescent in situ hybridization
- Molecular pathology
- MOLPATH
- MOLPATH.DELDUP
- Point in time
- Potocki-Lupski syndrome
- PTLS
- RAI1
- Random
- Smith-Magenis syndrome
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue