Li-Fraumeni Syndrome (LFS)

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome with an increased risk to develop (most notably) soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, and adrenocortical carcinoma (ACC). Classic LFS and Li-Fraumeni Like (LFL) syndrome are defined based upon the presence of these hallmark tumors in the proband and family members at early ages of onset, as noted in the table in the Information Sheet. Those individuals with isolated breast cancer diagnosed at an early age in the absence of a family history suggestive of LFS or LFL rarely have a mutation identified in the TP53 gene (Gonzalez et al., 2009; Ginsburg et al., 2009).

Tests Available

Forms and Documents

Test Details

  • An individual with a personal history and family history of tumors associated with Li-Fraumeni syndrome (LFS), such as soft tissue sarcoma, osteosarcoma, brain tumors, breast cancer, adrenocortical carcinoma, etc., particularly if at least one is early-onset
  • An individual with multiple primary cancers within the LFS-tumor spectrum, particularly if at least one is early-onset
  • An individual with a personal history of a rare LFS-associated tumor, such as an adrenocortical carcinoma, choroid plexus carcinoma, rhabdomyosarcoma of embryonal anaplastic subtype, etc., regardless of age
  • An individual with breast cancer diagnosed at age 30 or younger
  • An unaffected individual with a family history suggestive of LFS (see above) when an affected individual is unavailable for his or her own genetic testing.


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81405x1, 81479x1
For price inquiries please email

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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  2. Bougeard et al., (2003) Oncogene 22:840-846.
  3. Eeles et al., (1995) Cancer Surv 25 :101-124.
  4. Ginsburg et al., (2009) Fam Cancer 8:563-567.
  5. Gonzalez et al., (2009) J Clin Oncol 27:1250-1256.
  6. Gonzalez et al., (2009) J Med Genet 46 :689-693.
  7. Li et al., (1988) Cancer Res 48:5358-5362.
  8. Tinat et al., (2009) J Clin Oncol 27(26):e108-e109.
  9. Varley et al., (2003) Hum Mutat 21:313-320.