NSGC 2014

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

Abstract

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

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

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

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

Sarah Witherington, Carolyn Horton, Jill Dolinksy

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

Abstract

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