Hereditary

Our pediatric hereditary cancer test offerings include single-gene assays that evaluate specific genes already identified in a parent with a hereditary cancer syndrome. Our highly trained genetic counselors can work with providers to personalize testing for more than one familial variant, if indicated.

Key testing

• NF1Z | Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
  • Facilitates diagnosis in patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1).
  • Allows for targeted cancer surveillance based on associated risks.
  • Identifies genetic variants associated with increased risk for NF1, allowing for predictive testing of at-risk family members.
• PTNZ | PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
  • Facilitates diagnosis in patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS).
  • Allows for targeted cancer surveillance based on associated risks.
  • Identifies variants within genes known to be associated with increased risk for PHTS, allowing for predictive testing of at-risk family members.
• RETZZ | Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
  • Facilitates diagnosis in patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR).
  • Allows for targeted cancer surveillance based on associated risks.
  • Identifies variants within genes known to be associated with MEN2 or HSCR, allowing for predictive testing of at-risk family members.
• VHLZZ | Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
  • Facilitates diagnosis in patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome.
  • Allows for targeted cancer surveillance based on associated risks.
  • Identifies genetic variants associated with increased risk for VHL syndrome, allowing for predictive testing of at-risk family members.

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References

1. Screening for cancer in children. Finding cancer in children. American Cancer Society. https://www.cancer.org/cancer/cancer-in-children/finding-childhood-cancers-early.html, Revised Oct 14, 2019. Accessed Feb. 9, 2023.