Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis
Advanced Search
Select up to three search categories and corresponding keywords using the fields to the right. Refer to the Help section for more detailed instructions.
 
 
Help
Clear All
i


Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

Filetype[PDF-393.55 KB]


  • English

  • Details:

    • Alternative Title:
      J Inborn Errors Metab Screen
    • Description:
      All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (|) gene. Centers for Disease Control and Prevention's Newborn Screening Quality Assurance Program houses a dried blood spot repository of samples containing | mutations to assist newborn screening laboratories and ensure high-quality mutation detection in a high-throughput environment. Recently, | mutation detection has increased in complexity with expanded genotyping panels and gene sequencing. To accommodate the growing quality assurance needs, the repository samples were characterized with several multiplex genotyping methods, Sanger sequencing, and 3 next-generation sequencing assays using a high-throughput, low-concentration DNA extraction method. The samples performed well in all of the assays, providing newborn screening laboratories with a resource for complex | mutation detection and next-generation sequencing as they transition to new methods.
    • Source:
      J Inborn Errors Metab Screen. 4
    • Pubmed ID:
      28261631
    • Pubmed Central ID:
      PMC5332130
    • Document Type:
    • Collection(s):
    • Main Document Checksum:
    • File Type:

    Supporting Files

    More +

    You May Also Like

    Checkout today's featured content at stacks.cdc.gov