FISH Analysis - Langer-Giedion Syndrome Panel (EXT1 and TRPS1)
Trichorhinophalangeal Syndrome Type II | Langer | Giedion
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Test Information: |
Confirmation of Clinical Diagnosis |
Test Details |
Test Code: |
8430 |
Test Includes: |
For patients suspected of having LGS, the FISH-based assay utilizes two probes in order to detect the presence or absence of the EXT1 and TRPSI contiguous genes.
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Special Notes: |
For initial screening we recommend CMA - HR (#8655).
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Technical Information |
Methodology: |
Fluorescent in Situ Hybridization (FISH) Analysis |
Gene Name: |
EXT1, TRPS1 |
Protein Name: |
Exostosin-1, Zinc finger transcription factor TRPS1 |