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

Hendrix, Miyono M.; Foster, Stephanie L.; Cordovado, Suzanne K.

doi:10.1177/2326409816661358

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

Journal Article · Mon Oct 03 00:00:00 EDT 2016 · Journal of Inborn Errors of Metabolism and Screening

DOI:https://doi.org/10.1177/2326409816661358· OSTI ID:1629906

Hendrix, Miyono M. ^[1]; Foster, Stephanie L. ^[2]; Cordovado, Suzanne K. ^[2]

Centers for Disease Control and Prevention (CDC), Atlanta, GA (United States); DOE/OSTI
Centers for Disease Control and Prevention (CDC), Atlanta, GA (United States)

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 (CFTR) gene. Centers for Disease Control and Prevention’s Newborn Screening Quality Assurance Program houses a dried blood spot repository of samples containing CFTR mutations to assist newborn screening laboratories and ensure high-quality mutation detection in a high-throughput environment. Recently, CFTR 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 CFTR mutation detection and next-generation sequencing as they transition to new methods.

View Accepted Manuscript (DOE)

Research Organization:: Oak Ridge Institute for Science and Education (ORISE), Oak Ridge, TN (United States)

Sponsoring Organization:: USDOE Office of Science (SC), Biological and Environmental Research (BER). Biological Systems Science Division; Centers for Disease Control and Prevention (CDC); National Center for Environmental Health’s Division of Laboratory Sciences

Grant/Contract Number:: SC0014664

OSTI ID:: 1629906

Journal Information:: Journal of Inborn Errors of Metabolism and Screening, Journal Name: Journal of Inborn Errors of Metabolism and Screening Vol. 4; ISSN 2326-4594

Publisher:: SAGECopyright Statement

Country of Publication:: United States

Language:: English

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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil Bravo, Heydy; Neto, Eurico Camargo; Schulte, Jaqueline Molecular Genetics and Metabolism Reports, Vol. 12 https://doi.org/10.1016/j.ymgmr.2017.06.006	journal	September 2017
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel Leung, Marco L.; Watson, Deborah J.; Vaccaro, Courtney N. Scientific Data, Vol. 7, Issue 1 https://doi.org/10.1038/s41597-019-0339-4	journal	January 2020

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Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CFTR
cystic fibrosis
mutation
newborn screening
next-generation sequencing

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

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References (35)

Cited By (2)

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