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GTR Home > Tests > Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


The analytical sensitivity is approximately 99 percent for single nucleotide variants (SNVs) and greater than 93 percent for insertions/duplications/deletions (indels) from 1-10 base pairs in size. Indels greater than 10 base pairs may be detected, but the analytical sensitivity may be reduced. Deletions of 2 exons or larger are detected with sensitivity greater than 97 percent; single exon deletions are detected with 62 percent sensitivity. Duplications of 3 exons or larger are detected at greater than 83 percent sensitivity. Specificity is greater than 99.9 percent for all variant classes.


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Proficiency Testing (PT)

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FDA Regulatory Clearances of the Test


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