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December 8, 2025BloodOpen Access

Rapid hematologic germline testing using hair follicle-derived DNA for germline predisposition and inherited marrow failure states

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Authors

EMEmma C. St. MartinMayo ClinicDCDong ChenNanjing University of Chinese MedicineJFJenna FernandezToyota Motor Corporation (Switzerland)

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Overview

Rapid genomic testing improves management of hematological disorders, impacting care in 44% of patients with malignancies.

Key Points

  • To validate a rapid testing algorithm for germline predisposition in hematological disorders using hair follicle-derived DNA.
  • Conducted after IRB approval at Mayo Clinic GPS/IBMFS clinic.
  • Obtained 15-25 hair follicles per patient for analysis.
  • Performed PCR-based testing and assessed DNA quality using Nanodrop.
  • Evaluated whole exome sequencing and compared findings with other DNA sources.
  • 93 patients tested, 67 identified with at least one germline variant.
  • 30% of patients had management changes based on testing results.
  • Concurrent testing showed consistent results in germline variant identification except for one false negative.
  • Demonstrated successful use of hair follicle DNA for rapid germline assessment.

Cite This Study

Martin et al. (2025) studied this question.

synapsesocial.com/papers/69362f444fa91c937236d5bchttps://doi.org/10.1182/blood-2025-3211
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Also Consider

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

  1. 1Expanded germline genetic testing of patients with hematologic malignancies to identify high proportion with hereditary cancer predisposition.2026
  2. 2Next-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 malignancies2025
  3. 3Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults2025
  4. 4Hair bulb and oral mucosa DNA for prompt germline testing in hematologic neoplasms2026
  5. 5Whole genome transcriptome sequencing in inherited bone marrow failure syndromes and related diseases – the ibmdx study2025