Multi-gene panel testing
A comprehensive 98-gene germline panel covers inherited predisposition across 23 cancer types, including BRCA1/2, Lynch syndrome genes, PALB2, ATM, CHEK2, and others.
Clinical Area · Hereditary Cancer
Inherited cancer risk, interpreted responsibly
Hereditary cancer testing identifies germline variants that increase the risk of developing cancer. Results carry implications not just for the patient but for biological relatives — making appropriate ordering, consent, and post-result support essential.
All hereditary cancer testing through AC is ordered and interpreted through a qualified physician. Positive findings are discussed with the ordering clinician before cascade testing or surgical decisions are made.
Focused women's cancer panel
A targeted panel for hereditary breast, ovarian, and other women's cancer risk indications — appropriate when the clinical suspicion is more specific.
Cascade and family testing
Once a pathogenic variant is identified, single-site testing for biological relatives can be ordered to clarify individual risk before clinical decisions.
Clinical indications
When hereditary cancer testing is appropriate
Personal or family history of breast, ovarian, or colorectal cancer at young age
Multiple primary cancers in one individual or close relatives
Rare cancer types with known hereditary associations (e.g., male breast cancer)
Known pathogenic variant in the family — cascade testing for relatives
Treatment decisions where BRCA or other variant status is relevant (e.g., PARP inhibitor, olaparib)
Pre-surgical risk evaluation for contralateral mastectomy or risk-reducing surgery
Available tests
Hereditary cancer panels through AC
GC Genome
Hereditary Cancer Panel (98 genes)
A 98-gene germline panel covering inherited cancer predisposition across 23 cancer types.
Specimen: EDTA whole blood
TAT: 17–21 days
GC Genome
Hereditary Women's Cancer Panel
Focused hereditary cancer panel for breast, ovarian, and other women's cancer risk indications.
Specimen: EDTA whole blood
Result interpretation
What hereditary cancer results mean
Results should always be interpreted by a qualified physician or certified genetic counsellor in the context of the individual's clinical and family history.
Positive
— Pathogenic or likely pathogenic variant identified
An increased lifetime risk for specific cancer type(s) has been identified. Clinical management — including enhanced surveillance, chemoprevention, or risk-reducing procedures — should be discussed with a specialist. Biological relatives may benefit from targeted single-site cascade testing.
Negative
— No pathogenic variant detected in genes tested
A negative result significantly reduces but does not eliminate the possibility of a hereditary cancer syndrome. Family history and clinical context remain important. Variants not covered by the panel (including large rearrangements or genes outside the panel scope) are not excluded by a negative result.
VUS
— Variant of uncertain significance
A VUS is a genetic change whose clinical significance has not yet been established. Management decisions should not be based on a VUS alone. VUS classification can change over time as additional evidence accumulates. AC recommends discussing VUS findings with the ordering physician and, where appropriate, a genetic counsellor.
Hereditary cancer · clinical detail
Acceptance, limitations & reporting
General guidance to support ordering decisions. Specific thresholds, specimen requirements, and assay availability are confirmed per case with the reference laboratory before testing.
Sample acceptance criteria
- Peripheral blood in an EDTA tube, 4–6 mL, shipped within 72 hours of collection.
- Appropriate consent for germline testing; personal and family history support panel selection and interpretation.
- For cascade (single-site) testing, the family member's variant report is required.
Assay limitations
- Germline panels detect sequence variants and many copy-number variants in covered genes; some deep-intronic, structural, or repeat-expansion variants may not be detected.
- A negative result lowers but does not eliminate hereditary risk and does not cover genes outside the panel.
- Variants of uncertain significance may be reported and can be reclassified as evidence accrues.
What's reportable
- Pathogenic and likely pathogenic germline variants in covered genes relevant to the indication.
- Variants of uncertain significance per the laboratory's reporting policy.
- Cascade-testing guidance when a familial variant is confirmed.
Risk-management decisions are made by the ordering clinician or genetics team in the full clinical context.
Hereditary cancer · common questions
Hereditary cancer testing — questions physicians ask
Who should be offered hereditary cancer testing?
Testing is appropriate for patients with a personal or family history of early-onset cancer, multiple primary cancers, rare cancer types with known hereditary associations, a known familial pathogenic variant (for cascade testing), or where variant status informs treatment or risk-reducing surgery. Ordering should follow appropriate consent and, where indicated, genetic counselling.
What is the difference between a multi-gene panel and cascade testing?
A multi-gene panel screens many cancer-predisposition genes at once and is used when no familial variant is yet known. Cascade (single-site) testing looks only for a specific pathogenic variant already identified in a relative, and requires that relative's variant report. Cascade testing clarifies individual risk in a family with a confirmed variant.
How should a variant of uncertain significance (VUS) be handled?
A VUS is not a positive result. Under ACMG/AMP guidance, management decisions should not be based on a VUS alone — it should not trigger risk-reducing surgery or be used for cascade testing as though it were pathogenic. Classifications can change over time; maintain contact with the ordering service, as the laboratory will reissue the report if evidence reclassifies the variant.
Does a negative result rule out hereditary cancer risk?
No. A negative result lowers but does not eliminate hereditary risk. It does not cover genes outside the panel, and some deep-intronic, structural, or repeat-expansion variants may not be detected. Personal and family history remain central to risk assessment.
What specimen is required and how long does it take?
Germline panels use peripheral blood in an EDTA tube (4–6 mL), shipped within 72 hours of collection. Typical turnaround is around 14 days from receipt at the reference laboratory, depending on panel size and whether reflex analysis is needed.
Hereditary cancer
Discuss a case or order a panel
Share the personal or family history, cancer type, and clinical question. AC can help identify the appropriate panel and guide the ordering process.
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