Details:

Alternative Title:
J Inborn Errors Metab Screen
Personal Author:
Hendrix, Miyono M. ; Foster, Stephanie L. ; Cordovado, Suzanne K.
Hendrix, Miyono M. ; Foster, Stephanie L. ; Cordovado, Suzanne K. Less -
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.
Subject:
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Article
CFTR
Cystic Fibrosis
Mutation
Newborn Screening
Next-generation Sequencing

Source:
J Inborn Errors Metab Screen. 4
Pubmed ID:
28261631
Pubmed Central ID:
PMC5332130
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:1e05f9a429ca79588286960cba2c3e84f84316c1c235d14d2f125e424370d953
File Type:

Supporting Files

• nihms822513.nxml

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