Our team is looking forward to the ACMG Annual Meeting! Don't forget to stop by booth #831 to hear about our latest updates and to enter our raffle for a $200 Amazon gift card! 

 

Many of our team members also had abstracts accepted for the meeting as either platform or poster presentations. In addition, two of our abstract submission were awarded a "top-rated" poster designation by ACMG! Here is a full listing of all our accepted abstracts:

Monogenic Forms of Diabetes Remain Misdiagnosed and Often Inappropriately Treated: Updates from the US Monogenic Diabetes Registry (#17)
Thursday March 23, 9am-9.15am | North Ballroom A (Oral Platform Presentation)
May Sanyoura, PhD

Clinical Utility of Next Generation Sequencing and Array CGH for Diagnostics of Hereditary Myelodysplastic Syndrome/Acute Leukemia Predisposition Syndromes (#146)
Friday March 24, 10.30am-12pm | Exhibit Hall B-D (Poster Presentation, "Top Rated")
Zejuan Li, PhD

Diagnostic Workup of Patients with Congenital Hyperinsulinism Unmasks a Molecular Diagnosis of Kabuki Syndrome (#622)
Friday March 24, 10.30am-12pm | Exhibit Hall B-D (Poster Presentation, "Top Rated")
Kai Lee Yap, PhD

Diagnosing Disorders of Sex Development Prenatally or in Infancy by Clinical Next Generation Sequencing (#588)
Friday March 24, 10.30am-12pm | Exhibit Hall B-D (Poster Presentation)
Maria Helgeson, MS, CGC

Identification of a Novel Promoter Mutation in the PLA2G6 Gene in a Patient with Infantile Neuroaxonal Dystrophy (#464)
Friday March 24, 10.30am-12pm | Exhibit Hall B-D (Poster Presentation)
Marco Leung, PhD

Molecular Characterization of a Large Cohort of Patients with Congenital Hyperinsulinism and Implications for Management (#704)
Friday March 24, 10.30am-12pm | Exhibit Hall B-D (Poster Presentation)
Amy Knight Johnson, MS, CGC