Laboratory: Genomics  (MOLECULAR DIAGNOSTICS)
Test Name:
Hereditary Cancer panel - 23 gene panel (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM , MLH1, MSH2, MSH6, MUTYH, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53) - (B)
Test Code: MD
Clinical Information:
Description:  Full gene sequence analysis including the entire coding region and flanking intronic DNA (+/- 10 bp) is performed on the following 23 genes: APC, ATM, BARD1, BMPR1A (only sequencing), BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM (only deletion analysis), MLH1, MSH2, MSH6, MUTYH, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53

Test Indications: Ordering clinician should check clinical syndrome suspected, that is: Hereditary breast and ovarian cancer syndromes, gastrointestinal/Lynch Syndrome panel or other.
Testing for single gene analysis is available by request. Please provide clinical indication and family history.

Note, non-coding regions such as promoters, deep intronic regions, and untranslated regions are not usually examined by this analysis.

Ordering restricted to: Medical Genetics
Recommendations: Testing is limited to Medical Genetics.
Collection Devices:
Specimen Required:
Whole Blood: 8.0 mL
Pediatric Whole Blood: 0.5 mL

Pediatric: 0.5-2.0 mL 
Collection Information: Store and ship specimens at room temperature. Specimen is forwarded to Health Sciences Centre MS551.
Special Processing: Do NOT centrifuge.  Specimens sent for Molecular tests are not to be used for other tests (i.e., CBC).
Specimen Stability: 
Ambient: Preferred 
Refrigerated: Accepted
Frozen: Accepted – must remain frozen
Reference Values:
Within 12 Weeks
Routine TAT is 12 weeks. STAT TAT 4-6 weeks may be requested following laboratory consultation
See Also:
More Information:
Interpretation & Assay Interferences: An interpretive report will be sent.