Shortening the time between symptom onset and diagnosis for CLN2 disease: Results from Behind the Seizure™, a no-cost epilepsy gene panel testing program

2020 ◽  
Vol 129 (2) ◽  
pp. S157
Author(s):  
Ashley Volz ◽  
Dorna Chu ◽  
Stephanie Gurnon ◽  
Tiara Johnson ◽  
Christine Ly ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Epilepsy Gene

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests

2021 ◽  
Vol 132 (2) ◽  
pp. S98
Author(s):  
Guillermo Seratti ◽  
Vikram Pansare ◽  
Tiffany Yar Pang ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests

2021 ◽  
Vol 132 ◽  
pp. S201
Author(s):  
Guillermo Seratti ◽  
Tiffany Pang ◽  
Vikram Pansare ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests

2021 ◽  
Vol 132 ◽  
pp. S204
Author(s):  
Tiffany Pang ◽  
Rebecca Truty ◽  
Dianalee A. McKnight ◽  
Britt Johnson ◽  
Ana Morales ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Disease Diagnosis ◽  
Gene Panel ◽  
Pediatric Epilepsy ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing
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