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GTR Home > Tests > Diamond-Blackfan anemia panel by next-generation sequencing (NGS)

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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The analytic sensitivity of this methodology is >99%.

Citations

Not provided

Assay Limitation(s)

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Mutations in regulatory regions or other untranslated regions are not detected by this test. Large deletions involving entire single exons or multiple exons, large insertions and genetic recombinational events may not be identified using these methods. Rare primer site variants may lead to erroneous results.

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Inter-Laboratory

FDA Regulatory Clearances of the Test

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FDA Category Designation
FDA exercises enforcement discretion

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