LOINC display name : RAI1 gene 17p11.2 del and dup mutation analysis FISH Nom (Bld/Tiss);
LOINC long common name : RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood
or Tissue by FISH Nominal;
LOINC short name : RAI1 17p11.2 Del Dup Bld/T FISH;
LOINC 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.;
Has component