Course : ACMG Genomics Case Conference December 2018
Molecular Genetics of the Neurofibromatoses and Overlapping Disorders
Hosted by the University of Alabama at Birmingham (UAB)
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Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).
The goal for this webinar is to review the genetics and clinical spectrum of the neurofibromatoses. This will be done through case examples that highlight the ambiguities or necessity of unique testing approaches outside of standard DNA-based testing options from blood.
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.
Date of Release: December 19, 2018
Expiration Date: December 19, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME
Course Information Please Click Here
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Registration and Fees
ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30)
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)
At the conclusion of this session, participants should be able to:
- Differentiate NF1 versus Legius syndrome versus mosaic NF1 by applying appropriate testing and recognize current genotype-phenotype correlations
- Review unique testing approaches to analyze mosaicism
- Illustrate the ambiguity and overlap between NF2/ mosaic NF2 and schwannomatosis
- Utilize germline and somatic testing approaches to interpret and examine pathogenicity of variants associated with schwannomatosis predisposition disorders