Course : ACMG Genomics Case Conference October 2017

Next-Generation Sequencing for Somatic Variant Detection in Patients with Overgrowth and Related Disorders
Hosted by Washington University School of Medicine

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Course Description

Somatic variation is well recognized in relation to tumor mutation profiling in cancer genetics.  More recently, somatic variation has been discovered as the underlying cause for a number of congenital disorders with overgrowth as one of the primary clinical phenotypes.  In addition to overgrowth, many of these disorders harbor additional overlapping clinical features including but not limited to skin lesions, vascular anomalies and various neurological findings. To date, the vast majority of mutations detected in affected individuals have been found in the PI3K/AKT/mTOR pathway.  Due to the mosaic nature of this group of syndromes, testing requires deep sequencing of an affected tissue sample to uncover low variant allele fraction alterations responsible for disease.  Genomics and Pathology Services at Washington University in St. Louis developed testing for somatic overgrowth and related disorders using a target hybrid capture based next-generation sequencing assay.  This webinar will review overgrowth related disorders and our current clinical assay including a summary of our lab cohort to date and highlighted case studies.

 Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release:  October 25, 2017
Expiration Date: November 25, 2020

Estimate Time of Completion: 1 hour

Course must be completed by the expiration date

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Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

1. Illustrate the utility of next-generation sequencing in the detection of low variant allelic frequency somatic alterations
2. Review the genes interrogated on the testing panels and understand the relevance of these genes to the phenotype of the patient
3. Establish that the somatic etiology of overgrowth disorders necessitates genetic evaluation of involved tissue rather than blood
4. Demonstrate the frequency of genetic variation associated with somatic overgrowth disorders in a clinical laboratory cohort

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