Course Description

The objective of this course is to provide a review of molecular diagnosis of common hereditary or neoplastic disorders for which DNA-based diagnosis is now in routine use. Topics include FGFR3 disorders, fetal blood typing, thrombophilias, hemochromatosis, fragile X syndrome, polyglutamine disorders, hereditary breast cancers, Charcot Marie Tooth and spinal muscular atrophy, PraderWilli and Angelman syndromes, mitochondrial diseases, Duchenne and Becker muscular dystrophy, cystic fibrosis, and Smith-Lemli-Opitz Syndrome. Sessions also include genetic risk prediction, using linkage and Bayesian analysis as well as DNA forensics and paternity testing. The course is designed as part of the required curriculum for Clinical Genetics residents and Fellows preparing for the Clinical Molecular Genetics Boards given by the American Board of Medical Genetics.

Learner Outcomes

When you complete the course successfully, you will be able to:

  • Appreciate the types of techniques used in molecular genetic diagnostic laboratories, including the limitations of each assay
  • Acquire skills in calculating residual risks after molecular testing

Textbook Information

There is no textbook for purchase required for this course.


GENE 500 and permission of the instructor. If you are unsure that you meet the prerequisite requirements, please contact registrar@faes.org and provide information about your course of interest and background knowledge.

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Section Title
Current Concepts in Clinical Molecular Genetics and Molecular Diagnostics
Online Asynchronous
Jan 31, 2024 to May 14, 2024
Total Cost (Includes $75 non-refundable technology fee per course when applicable)
Eligible Discounts Can Be Applied at Checkout (1 Credits) $425.00
Potential Discount(s)
Available for Academic Credit
1 Credit(s)
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