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

Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

  • GTR Test IDHelp: GTR000603801.2
  • Last updated: 2023-07-31
  • Test version history

Clinical testHelp for Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Offered by ARUP Laboratories, Molecular Genetics and Genomics

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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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.

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
No

FDA Regulatory Clearances of the Test

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Not provided

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