Course : Molecular Cytogenics: The Next Generation in Balanced Rearrangement Detection

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.




Balanced genomic rearrangements have classically been detected in clinical diagnostic laboratories at the DNA level using karyotyping or fluorescence in situ hybridization (FISH) and at the RNA level through reverse-transcriptase PCR (RT-PCR) or real-time PCR (qPCR). High-complexity molecular technologies are evolving to complement and/or supplant the current methods in both the constitutional and neoplastic setting. Speakers will describe technical aspects, pros and cons, and applications for the following: whole- genome sequencing, fusion-targeted RNAseq, and microfluidics-based linked-read sequencing.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


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

1. Describe the molecular methods for identifying balanced genomic rearrangements
2. Contrast the clinical utility and limitations of current and evolving technologies for balanced genomic rearrangement detection
3. Explain current methods of RNA-Seq, and its function in oncology diagnostics
4. Differentiate how evolving technologies will answer clinical questions historically answered by conventional cytogenetics

Purchase without Educational Credits