Laboratory: Genomics  (MOLECULAR DIAGNOSTICS)
Test Name:
Hereditary Cancer panel - 24 gene panel (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM , MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, 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 24 genes: APC, ATM, BARD1, BMPR1A (only sequencing), BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM (only deletion analysis), MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.

 

PMS2 full analysis requires additional chemistry, ONLY completed in cases with IHC-identified PMS2-deficient tumors.

 

Complete PMS2 analysis may increase the turnaround time for reporting.

Test Indications: The ordering clinician should check for the clinical syndrome suspected, which includes: Hereditary breast and ovarian cancer syndromes, gastrointestinal/Lynch Syndrome panel, or other conditions.
 
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

 
Collection Devices:
Preferred Device:
Alternate Device:
2 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line


Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line
Manufacturer: Becton Dickinson & Company

Catalogue #: 363706
 - Quantity: 2-6
Microtainers for pediatric samples only

Note that extracted DNA samples can only be accepted from accredited laboratories. For prenatal diagnosis, contact laboratory for prior approval and to obtain specimen requirements. Contact Lab Genetic Counsellor at GenomicsLabGC@sharedhealthmb.ca or ph:204-787-4033 with any questions.
Specimen Required:
Whole Blood: 8.0 mL
Pediatric Whole Blood: 1.0 mL

Pediatric: 1.0-3.0 mL 
Special Processing: Do NOT centrifuge.  Forward specimens to Health Sciences Centre MS551.
Specimen Stability: 
Ambient: Preferred - store and ship specimens at room temperature
Refrigerated: Accepted
Frozen: Accepted – must remain frozen


Specimens sent for Molecular tests are not to be used for other tests (i.e., CBC).
Referral:
Requisition:
Reference Values:
Reference Intervals: An interpretive report will be sent.
Availability:
Within 12 Weeks
Routine TAT is 12 weeks. Expedited TAT 4-6 weeks may be requested following laboratory consultation
See Also:
More Information: