NSGC 2014

Cost should not be a barrier to genetic testing in patients with paragangliomas and pheochromocytomas

Abstract

Jennifer Thompson, Jill Dolinsky, Katherine Nathanson, Lauren Fishbein, Sarah Witherington, Shana L Merrill

NF1 mutations detected on multi-gene cancer panel testing in probands with atypical phenotypes.

Abstract

Patients with multiple pathogenic mutations detected by multi-gene panel testing in a Lynch syndrome cohort

Abstract

Carin Espenschied, Carla Mason, Carolyn Horton, Holly Laduca, Pia Summerour, Tina Pesaran, MA, MS, CGC

Multi-gene testing for paragangliomas and pheochromocytomas: Diagnostic yield and phenotypic spectrum

Carolyn Horton, Jill Dolinksy, Sarah Witherington

Diagnostic exome sequencing for patients with a family history of consanguinity: Over 40% of positive results do not follow an autosomal recessive pattern

Abstract

Cameron Mroske, Dima El-Khechen, Kelly Gonzalez, Layla Shahmirzadi, Zöe Powis