Precision diagnostics for pediatric cancers

Efficient, optimized answers

For families facing a childhood cancer diagnosis, access to personalized, trustworthy guidance on how to best treat their child’s illness is paramount. Mayo Clinic Laboratories’ testing for childhood malignancy is designed by pediatric oncology experts to evaluate targetable mutations for individualized insights that can confirm diagnosis and guide treatment selection.

By the numbers


children are diagnosed with brain or spinal cord cancers each year1


of pediatric cancer patients who underwent molecular testing were identified as having an actionable mutation2


of pediatric cancer are central nervous system3


of CNS tumors are treatable4

Pediatric central nervous system tumors

CNS tumors are the most common type of cancer in children ages 15 to 19 and the second most common type of cancer in children between 0 and 14.5 Effective treatment is possible in approximately 70% of pediatric CNS patients, however, early, accurate detection and identification is essential for optimal outcomes.4

Pediatric CNS tumors have higher instances of gene fusions than adults. And some pediatric tumor types, including the most common, medulloblastoma, have varying molecular characteristics affiliated with distinct clinical outcomes.6 Precision analysis that simultaneously detects for multiple biomarkers can provide a heightened understanding of the genetic landscape of a child’s tumor. 

Mayo Clinic Laboratories’ pediatric-focused neuro oncology testing includes both comprehensive, MayoComplete next-generation sequencing (NGS) and chromosomal microarray. Used in combination, these tests provide robust coverage of established and emerging cancer-related gene expression, including mutations, rearrangements, fusions, and copy number variants.

Designed to align with 2021 World Health Organization molecular biomarkers classification and developed in collaboration with Mayo Clinic neuro oncologists, molecular geneticists, and genetic counselors, our testing covers an array of central nervous system (CNS) cancers, including:

  • Medulloblastoma
  • Pilocytic astrocytoma
  • Pediatric-type gliomas  
  • Neuroblastoma

Key testing

NONCP | Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor

  • Uses next-generation sequencing panel to evaluate abnormalities in 160 genes associated with pediatric-type brain tumors.
  • Simultaneously assesses for multiple 2021 WHO diagnostic/grading molecular/biomarkers, including mutations in 89 genes and rearrangements in 81 gene.
  • Offers increased sensitivity to detect lower-level tumor purity.
  • Guides decisions on targeted treatment options.

CMAPT | Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

  • Uses high-resolution, genome-wide copy number variant analysis to provide robust coverage of emerging diagnostic biomarkers, such as CDKN2A/B homozygous deletion.
  • Simultaneously tests for multiple 2021 WHO diagnostic biomarkers, including copy number variants and amplifications.
  • Superior analysis of the 1p/19q deletion in gliomas.
  • Detects abnormalities, including the gain of chromosome 7, loss of chromosome 10, and EGFR amplification.

Pediatric soft-tissue cancers

Although soft tissue sarcoma is among the most rarely occurring cancer in adults, in children it is the fourth most common, accounting for about 10% of all pediatric cases.7 Sarcoma can occur in any of the soft tissue in the body, as well as bones. Rhabdomyosarcoma is the most prevalent sarcoma in children, who comprise 60% of all cases.8

Because there are more than 100 different subtypes of sarcoma, many with overlapping features, genetic testing can clarify and improve diagnostic accuracy and overall patient management.

Mayo Clinic Laboratories’ next-generation sequencing sarcoma fusion panel assesses for fusions described in 39 subtypes of soft tissue, bone, and other mesenchymal tumors. Because fusion events can occur between known or novel gene partners, the panel is designed to provide the most comprehensive analysis by including 124 gene fusion pairs, 274 fusion variants, and novel gene partner detection.

SARCP | Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor

  • Analyzes rearrangements for 138 genes including known and novel fusions.
  • Assesses fusions described in 39 subtypes of soft tissue, and bone tumors.
  • Includes fusions common in pediatric rhabdomyosarcoma and Ewing sarcoma family and related tumors.

Hereditary testing

Some children may present with clinical features suspicious of an inherited cancer syndrome or may inherit certain genetic mutations from a parent and are at increased risk for developing cancer. For these young patients, testing to identify genetic variations can help providers better understand risk of inherited cancer predisposition.9

Mayo Clinic Laboratories’ pediatric hereditary cancer test offerings include single gene assays that evaluate specific genes already identified in a parent with a hereditary cancer syndrome. In addition, our highly trained genetic counselors can work with providers to personalize testing for more than one familial variant, if indicated. Among our relevant single gene testing for pediatric patients at risk for inherited cancer are:

Learn more about how to order these tests at your institution.


  1. Key Statistics for Brain and Spinal Cord Tumors in Children. American Cancer Society. Revised Jan. 12 2023. Accessed Feb 9 2023.
  2. Lee J., Gillam L., Visvanathan K., Hansford J., McCarthy M. Clinical Utility of Precision Medicine in Pediatric Oncology: A Systemic Review. JCO Precision Oncology. 2021 :5, 1088-1102
  3. Rare cancers of childhood treatment (PDQ®) – Health Professional Version. National Cancer Institute. Updated Dec. 8, 2022. Accessed March 6, 2023.
  4. Goldman R., Chang, S., Cochrane, D. Improving diagnosis of pediatric central nervous system tumors: aiming for early detection. CMAJ. March 27, 2017 189 (12) E459-E463; DOI:
  5. Cancer in children and adolescents. National Cancer Institute.  Reviewed Nov. 4, 2021. Accessed Feb. 9 2023.
  6. Menyhárt O, Győrffy B. Molecular stratifications, biomarker candidates and new therapeutic options in current medulloblastoma treatment approaches. Cancer Metastasis Rev. 2020;39(1):211-233. doi:10.1007/s10555-020-09854-1.
  7. Williams R.,  Fernandez-Pineda I.,  Gosain A. Pediatric Sarcomas. The Surgical Clinics of North America 2016-10-01, Volume 96, Issue 5, Pages 1107-1125. 
  8. Skapek SX, Ferrari A, Gupta AA, et al. Rhabdomyosarcoma. Nat Rev Dis Primers. 2019;5(1):1. Published 2019 Jan 7. doi:10.1038/s41572-018-0051-2.
  9. Screening for cancer in children. Finding cancer in children. American Cancer Society., Revised Oct 14, 2019. Accessed Feb. 9, 2023.