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). FISH analysis for the EXT1 gene (#8472) or the TRPSI gene (#8482) are also available.
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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 |
