High-depth multi-gene panel analysis with integrated sequence and copy number detection is a useful first-tier test with a high diagnostic yield and broad mutation spectrum detection in childhood epilepsy
Darlene Riethmaier, MS, CGC, Invitae
Platform presentation
12:15 - 12:30 pm
Addition of a remote genetic counselor to the breast specialist’s team improves clinical decision-making
Erin O'Leary, MS, CGC, Invitae
Platform presentation
3:45 - 4:00 pm
Next-generation sequencing and a novel bioinformatic approach identifies copy number variation in ion channel genes in a clinical laboratory
Emily James, MS, LCGC, Invitae
Poster C-114 (Group C)
1:15 - 2:30 pm
Counseling healthy individuals for preventive genetic screening: A case report
Sienna Aguilar, MS, CGC, Invitae
Poster C-129 (Group C)
1:15 - 2:30 pm
Identification of balanced translocation carriers through routine preimplantation genetic screening
Dana K. Neitzel, MS, CGC, Good Start Genetics
Poster C-204 (Group C)
1:15 - 2:30 pm
Diagnostic yield for neurological and neuromuscular disorders testing with high-depth multi-gene panel analysis with integrated sequence and copy number detection
Darlene Riethmaier, MS, CGC, Invitae
Poster C-288 (Group C)
1:15 - 2:30 pm