Z15.02

Genetic susceptibility to malignant neoplasm of ovary

Genetic susceptibility to malignant neoplasm of the ovary (Z15.02) is a clinical status code used to identify individuals who possess a documented genetic predisposition to ovarian, fallopian tube, or primary peritoneal cancers. This susceptibility is most commonly associated with germline mutations in the BRCA1 and BRCA2 tumor suppressor genes, which are involved in DNA repair via homologous recombination. Additionally, this code encompasses individuals with Lynch syndrome (Hereditary Non-Polyposis Colorectal Cancer, or HNPCC), caused by mutations in DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, and PMS2. Other recognized genetic contributors include mutations in BRIP1, RAD51C, RAD51D, and STK11. The identification of this status is clinically significant as it dictates intensive surveillance protocols, including regular transvaginal ultrasonography and serum CA-125 monitoring, and informs complex surgical decision-making regarding risk-reducing salpingo-oophorectomy (RRSO). This code should be used when a patient has a known genetic mutation that increases their risk, rather than for a family history alone (which would be coded to the Z80 series).

Clinical Symptoms

  • Presence of pathogenic germline mutations (e.g., BRCA1, BRCA2, MLH1, MSH2)
  • Strong family pedigree of early-onset ovarian, breast, or colorectal cancers
  • Elevated serum CA-125 levels during routine surveillance
  • Abnormal findings on screening transvaginal ultrasound (e.g., adnexal masses)
  • Clinical anxiety regarding hereditary cancer risk
  • Manifestations of Peutz-Jeghers syndrome (e.g., mucocutaneous pigmentation)
  • Pelvic pressure or bloating (early detection indicators during surveillance)
  • Personal history of related cancers (e.g., early-onset breast cancer)

Common Causes

  • Inherited BRCA1 gene mutation (Chromosome 17q21)
  • Inherited BRCA2 gene mutation (Chromosome 13q12.3)
  • Lynch syndrome (pathogenic variants in MLH1, MSH2, MSH6, PMS2, or EPCAM)
  • BRIP1 (BRCA1-interacting protein) gene mutations
  • RAD51C and RAD51D gene mutations (homologous recombination pathway)
  • STK11 gene mutations associated with Peutz-Jeghers syndrome
  • Other moderate-to-high penetrance ovarian cancer susceptibility genes
  • Epigenetic silencing of mismatch repair genes (less common in germline)

Documentation & Coding Tips

Distinguish between family history and genetic susceptibility by documenting confirmed genetic test results.

Example: The patient presents for follow-up genetic results. Testing confirms a BRCA1 c.5266dupC pathogenic variant. This confirms genetic susceptibility to malignant neoplasm of ovary (Z15.02). The patient has a strong family history (Z80.1), but the genetic confirmation shifts the primary risk management to this specific susceptibility. We discussed the 40 percent lifetime risk of ovarian cancer and the plan for semi-annual transvaginal ultrasound and CA-125 monitoring. 35 minutes spent in counseling and coordination of care (Moderate MDM).

Billing Focus: Confirmation of specific gene mutation variant to support Z15.02 over Z80.1.

Document the clinical management plan including specific surveillance techniques used for early detection.

Example: Asymptomatic 35-year-old female with known BRCA2 mutation (Z15.02). Patient is currently managed with high-risk surveillance including transvaginal ultrasound and serum CA-125 every 6 months. Patient also has a history of cystic breasts (N60.11). Today's exam shows no adnexal masses. Documentation of the specific surveillance protocol supports the complexity of managing this chronic susceptibility condition.

Billing Focus: Inclusion of diagnostic surveillance methods like transvaginal ultrasound (76830) and CA-125 (86304).

Clearly record the patient decision-making process regarding risk-reducing salpingo-oophorectomy.

Example: Patient with Lynch Syndrome (Z15.02 for ovarian susceptibility) presents to discuss risk-reducing bilateral salpingo-oophorectomy (RRBSO). Patient is 42 years old and has completed childbearing. Discussed that RRBSO reduces ovarian cancer risk by approximately 80 to 90 percent in this population. Patient wishes to proceed with surgery next month. This decision-making process for a major surgical prophylaxis is documented to support the medical necessity of Z40.02.

Billing Focus: Detailed surgical counseling and decision-making for prophylactic procedures.

Specify the exact gene involved as some mutations carry higher risks than others for ovarian vs. breast cancer.

Example: Patient carries the RAD51D mutation, conferring genetic susceptibility to malignant neoplasm of ovary (Z15.02). Documentation notes that while breast cancer risk is less clear, the ovarian cancer risk is significantly elevated, justifying early oophorectomy around age 45. Patient currently maintains annual pelvic exams and imaging. This specificity in gene-related risk helps justify distinct monitoring schedules.

Billing Focus: Detailed naming of the mutation (e.g., RAD51D, BRIP1, PALB2).

Ensure the documentation supports the use of Z15.02 in conjunction with counseling and screening codes.

Example: Patient here for 30 minutes (25 minutes face-to-face) for genetic counseling (96040) regarding her STK11 mutation and Peutz-Jeghers syndrome, which includes genetic susceptibility to malignant neoplasm of ovary (Z15.02). Discussed the risk of sex cord tumors with annular tubules. Patient advised on symptom reporting and scheduled for baseline pelvic MRI. The high complexity of the genetic profile and multi-organ risk is documented.

Billing Focus: Time-based genetic counseling (96040) and integration with screening orders.

Relevant CPT Codes

Related Diagnoses

Hierarchy