Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level…

Cohort studyCancers· Apr 2026

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing.

Qian Nie, Kala F Schilter, Alexandra Larson … Honey V Reddi

Laboratory Genetics & GenomicsCohort studyDiagnosisQ1IF 4.9

Belay Ascent cerebrospinal fluid liquid biopsy detects gene-level copy number variants with 90% agreement to tissue testing.

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing.

Qian Nie … Honey V Reddi

Cancers · Apr 2026

Background

Evaluation of chromosome aneuploidy and gene-level copy number alterations for diagnosis, prognosis, and therapeutic decision-making in solid tumors is the standard of care.

Methods

This study presents the equivalence of Ascent™ in detecting chromosome arm-level aneuploidy and gene-level copy number variants using 48 tissue specimens followed by a clinical validation using a cohort of 32 cerebrospinal fluid specimens with matched tissue-based tumor profiling information.

n = 32 CSF specimens

Results

gene-level copy number variants calls from cerebrospinal fluid matched tissue testing in 9 of 10 cases

78%

Aneuploidy PPA

90%

Gene-level CNV PPA

More results

Clinical impact of Ascent™ was demonstrated, with 243 production cases able to inform the diagnosis and management of central nervous system tumors with high accuracy.

“

Conclusion

Given the paucity of cells in cerebrospinal fluid, limiting the use of karyotyping, chromosomal microarray, immunohistochemistry, and FISH, the Belay Ascent™ test provides a highly sensitive novel minimally invasive method for the evaluation of chromosome aneuploidy and gene-level copy number variants in cerebrospinal fluid.

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing.

Clinical Validation of the Belay Ascent™ Test to Report on Chromosomal Arm-Level Aneuploidy and Gene-Level Copy Number Variants in Cerebrospinal Fluid Using Low-Pass Whole-Genome Sequencing.

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