Autism Spectrum Disorders: Genetic Testing (Online Course)

(based on 170 customer ratings)

Author: David J Moffa, PhD, BCLD
Reviewer: Jenny Camele, MT(ASCP)

Research suggests that autism spectrum disorder (ASD) may have a genetic basis; however, the genetics of autism appears to be complex and it is unclear whether ASD is explained by multigene interactions or by rare mutations with major effects. This course is intended to discuss the genetics behind ASD and review the genetic testing commonly available for ASD, including the methods behind such genetic tests.

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Continuing Education Credits

  • P.A.C.E.® Contact Hours: 1.5 hour(s)
  • Florida Board of Clinical Laboratory Science CE - General (Molecular Pathology): 1.5 hour(s)

Objectives

  • Define autism and autism spectrum disorder (ASD).
  • Analyze the facts and statistics for ASD.
  • Discuss the signs/symptoms and causes/risk factors of ASD.
  • Examine the suggested diagnostic procedures and treatments for ASD.
  • Outline the genetics behind ASD and define fragile X syndrome (FXS).
  • Review the genetic testing commonly available for ASD and the methods behind such genetic tests.
  • Explain chromosomal microarray (CMA) and next generation sequencing (NGS) technologies.
  • Identify professional society guidelines and recommendations, as well as major insurer's policies for ASD genetic testing.

Customer Ratings

(based on 170 customer ratings)

Course Outline

  • An Overview of Autism Spectrum Disorder (ASD)
    • History and Definition:
      • Autism: Historical Perspective
      • Autism Spectrum Disorder (ASD)
      • Until the 1960s, the term autism was linked to what other condition?
      • ________ is a group of developmental disabilities that can cause significant social, communication, and behavioral challenges.
    • Facts and Statistics:
      • ASD Facts and Statistics
      • Which statements are TRUE relative to ASD?
    • Signs and Symptoms:
      • ASD Signs and Symptoms
    • Causes and Risk Factors:
      • ASD Causes and Risk Factors
      • While the exact cause or causes of ASD are not known, most experts tend to believe that many different factors may make a child more likely to have AS...
    • Diagnosis of ASD:
      • Diagnosis of ASD
      • All the following are correct concerning ASD diagnosis EXCEPT for which statement?
    • Treatment of ASD
      • Treatment of ASD
      • Currently, there is not a cure for ASD, but early intervention treatment services can improve a child's development.
  • Genetics of ASD
    • Overview of the Genetics of ASD
      • Genetics of ASD
      • Which of the following statements are TRUE regarding genetics and ASD?
    • Fragile X Syndrome and ASD
      • Fragile X Syndrome and ASD
    • Summarizing the Genetics of ASD
      • Genetics and ASD: Summary
      • ____________ is a genetic condition that causes intellectual disability and in approximately half of all children with this condition, the criteria fo...
      • Research has identified several genes that are related to ASD and these genes may account for at least half of ASD cases.
  • Genetic Tests for ASD
      • Genetic Testing for ASD
    • Lead Testing
      • Blood Lead Screening
    • Genetic Testing Methodologies: Next Generation Sequencing (NGS) and Chromosomal Microarray Analysis (CMA)
      • Genetic Testing for ASD: Next-Generation Sequencing (NGS)
      • Genetic Testing for ASD: Chromosomal Microarray Analysis (CMA)
      • Genetic Testing for ASD: Chromosomal Microarray Analysis (CMA), continued
      • Commercially Available Genetic Tests for ASD and Other Intellectual Disabilities and Developmental Disabilities
      • Which statements are TRUE regarding blood lead screenings?
      • Chromosomal microarray (CMA) technology is commonly used to determine if there are small extra (micro-duplication) or missing (micro-deletion) pieces ...
    • ASD Genetic Tests
      • Lineagen's FirstStepDx PLUSĀ® Test
      • Which statement describing the Lineagen FirstStepDx PLUS® test is FALSE?
      • ARISkĀ® Autism Risk Assessment Test
      • GeneDx Autism/ID Xpanded Panel
      • The ARISk® test uses a trio approach which analyzes not only the affected patient, but both parents to identify a genetic explanation for ASD.
  • Professional Society Guidelines and Recommendations for ASD genetic testing:
      • Professional Society Guidelines: CMA Testing for ASD
      • Professional Society Guidelines: CMA Testing for ASD (continued)
  • Insurer's Policies on ASD Genetic Testing
      • Insurer's Coverage Recommendations on ASD Genetic Testing
  • Conclusions on Genetic Testing for ASD
      • Conclusions on Genetic Testing for ASD
      • Conclusions on Genetic Testing for ASD (continued)
      • What conclusions can be made regarding genetic testing for ASD?
  • References
      • References

Additional Information

Level of instruction: Intermediate

Intended audience: Clinical laboratory professionals including medical laboratory scientists, medical technologists, and technicians. This course is also appropriate for clinical laboratory science and MLT students, pathologists, and clinicians.

Author information: David J. Moffa, PhD, BCLD, has over 30 years of experience in the healthcare industry as an executive manager, clinical laboratory director, and medical laboratory scientist. He is currently a technical consultant for Kentmere Healthcare, Wilmington, DE, and until his retirement, was the Regional Director for LabCorp, Inc. He holds a PhD in medical biochemistry from the School of Medicine, West Virginia University.

Reviewer information: Prior to her retirement in 2012, Jenny Camele, MT(ASCP) was employed by Laboratory Corporation of America as the manager of customer service operations for the Fairmont West Virginia Region and a Quality Assurance committee member. She holds a Bachelor of Science degree in Medical Technology from West Virginia University.

Course Description: Research suggests that autism spectrum disorder (ASD) may have a genetic basis; however, the genetics of autism appears to be complex and it is unclear whether ASD is explained by multigene interactions or by rare mutations with major effects. This course is intended to discuss the genetics behind ASD and review the genetic testing commonly available for ASD, including the methods behind such genetic tests.




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