For rare pediatric diseases, genome sequencing can increase diagnostic yield

By Nabihah Sachedina, MBBS, MPP, MBA

 LEARNING OBJECTIVES

Upon completion of this article, the reader will be able to: 

  1. List past testing paradigms in the diagnosis of rare pediatric diseases.
  2. Describe the factors and benefits for the advancement of molecular diagnostics in rare pediatric diseases.
  3. Describe the type of mutations that different molecular sequencing tests can identify.
  4. Discuss the prevalence and disease rates and cause of rare pediatric diseases.

Nabihah Sachedina, MBBS, MPP, MBA currently serves as Vice President, Health Programs, at Oxford Nanopore Technologies. She is a UK-trained pediatrician who has spent more than a decade developing and implementing city-wide, regional, and national public health and healthcare policy.

Cover photo credit:  Photo 56463226 © Aviahuismanphotography | Dreamstime.com

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Course Includes

  • 1 Lesson
  • 1 Test
  • Course Certificate
  • Level of Instruction: Intermediate

    Medical Laboratory Observer (MLO) is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program.

    Level of Instruction: Intermediate
    Passing scores of 70 percent or higher are eligible for 1 contact hour of P.A.C.E. credit. This test is no longer valid for CEs after June 2025.

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