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December 8, 2025BloodOpen Access

Next-generation sequencing (NGS) of DNA isolated from nail specimens and run in parallel with tumor NGS accurately and efficiently detects germline predisposition variants in myeloid malignancies

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Authors

CCCailin CollinsNational Institutes of HealthMSMarc SchwartzUniversity of Pittsburgh Medical CenterAGAlisa GaskellChildren's Hospital Colorado

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Overview

Quality improvement study confirms next-generation sequencing on nail DNA identifies variants in myeloid malignancies, suggesting efficient testing options.

Key Points

  • To evaluate the accuracy of DNA sequencing from nail specimens in detecting germline variants in myeloid malignancies.
  • Conducted paired germline testing on patients with newly diagnosed AML or MDS using DNA from nail clippings and skin fibroblasts.
  • Used a custom 602 gene panel for next-generation sequencing targeting myeloid malignancies.
  • Performed a quality improvement study comparing test outcomes from both specimen types.
  • Identified germline P/LP variants in 4 out of 31 patients (12.9%).
  • Results were 100% concordant between nail and skin fibroblast samples.
  • Median turn-around time for nail specimens was significantly faster (16 days) compared to skin fibroblasts (31 days).
  • No false positive results were reported for nail clippings.

Cite This Study

Collins et al. (2025) studied this question.

synapsesocial.com/papers/69362f604fa91c937236dd4dhttps://doi.org/10.1182/blood-2025-1084
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies2024 · 10 citations
  2. 2Rapid hematologic germline testing using hair follicle-derived DNA for germline predisposition and inherited marrow failure states2025
  3. 3Development and clinical evaluation of a cost-effective method with capillary electrophoresis sequencer-based fragment analysis assay panel for genetic classification and risk stratification in de novo AML2025
  4. 4How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know2025 · 2 citations
  5. 5Abstract 3834: Performance validation of a next generation sequencing myeloid assay on an integrated nucleic acid purification and sequencing system2026