For rare pediatric diseases, genome sequencing can increase diagnostic yield

By Nabihah Sachedina, MBBS, MPP, MBA


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 |

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  • MLO and Northern Illinois University (NIU), DeKalb, IL, are co-sponsors in offering continuing education units (CEUs) for this issue’s CE article. CEUs or contact hours are granted by the College of Health and Human Sciences at Northern Illinois University, which has been approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E.® program. Continuing education credits awarded for successful completion of this test are acceptable for the ASCP Board of Registry Continuing Competence Recognition Program. Readers who pass the test successfully (scoring 70% or higher) will receive a certificate for 1 contact hour of P.A.C.E.® credit. The fee for this continuing education test is $20. This test was prepared by Amanda Voelker, MPH, MT(ASCP), MLS, Clinical Education Coordinator, School of Health Studies, Northern Illinois University, DeKalb, IL.

    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 This test is no longer valid for CEUs after June 2025.

    NIU is approved as a provider of continuing education programs in the clinical laboratory sciences by the ASCLS P.A.C.E. ® Program.