Hereditary Cancer Single Site(s)

Casandra

Casandra Test Code QD50492Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 93945

Hereditary Cancer Single Site(s)

Also known as: BRCA, Familial mutation, Known familial mutation

Clinical Use

Order Test

Use

The Hereditary Cancer Single Site(s) test is used to identify the presence or absence of a known familial variant (known familial mutation, KFM) previously identified in a family member. It can additionally serve confirmatory purposes for research results, tumor profiling findings, direct-to-consumer testing, or raw data analysis. Official test results from the family member (or the individual) are required for laboratory review. This test is an option when a familial mutation has already been identified and is confined to any of the genes included in the Comprehensive Hereditary Cancer Panel (66 genes) ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq216?utm_source=openai)).

Special Instructions

Official test results of the family member, or of the individual if confirmatory testing, must be available for laboratory review. For ordering information or questions about a specific case, contact Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq216?utm_source=openai)).

Limitations

This test is limited to detection of the known familial variant only (KFM) and does not analyze any other gene regions beyond that variant. It cannot detect all causes of hereditary predisposition to cancer. Additional genetic testing may be appropriate depending on personal/family history. Results should be interpreted within the context of clinical findings, family history, and other laboratory data. Rare false-positive or false-negative results may occur. Clinical genetic counseling and comprehensive evaluation is recommended ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq216?utm_source=openai)).

Test Details

Methodology

NGS

Biomarkers

Detects presence or absence of a previously identified familial variant in any of the 66 genes included on the Comprehensive Hereditary Cancer Panel.

Mutation (66 genes)

APCATMAXIN2BAP1BARD1BLMBMPR1ABRCA1BRCA2BRIP1CDH1CDK4CDKN1BCDKN2ACHEK2DICER1EGFREPCAMFANCAFANCCFANCMFHFLCNGALNT12GREM1HOXB13MAXMEN1METMITFMLH1MRE11AMSH2MSH3MSH6MUTYHNBNNF1NTHL1PALB2PMS2POLD1POLEPOT1PTCH1PTENRAD50RAD51CRAD51DRECQLRETSDHASDHAF2SDHBSDHCSDHDSMAD4SMARCA4STK11SUFUTMEM127TP53TSC1TSC2VHLXRCC2