|FISH Analysis - Trichorhinophalangeal Syndrome Type I
TRPSI | TRP1
||Confirmation of Clinical Diagnosis
This test is probe specific for the TRPSI gene.|
For initial screening we recommend CMA - HR (#8655).
Only a small percentage (<30%) of individuals with TRPSI will have microdeletions of 8q that can be detected by FISH. The majority of patients with TRPSI (70%) have point mutations in the TRPSI gene. Due to the clinical variability of both Langer-Giedion syndrome (LGS) and TRPSI, patients deleted for the TRPSI locus will be offered additional testing to detect the deletion of EXT1 associated with Langer-Giedion syndrome.
||Fluorescent in Situ Hybridization (FISH) Analysis
||Zinc finger transcription factor Trps1