Laboratory: Genomics  (MOLECULAR DIAGNOSTICS)
Test Name:
FAMILY SPECIFIC CANCER GENE VARIANT ANALYSIS - (B)
Test Code: MD
Clinical Information:
Alternate Name(s): FAMILY SPECIFIC VARIANT ANALYSIS - (B)

Test Indications:
 Targeted analysis is performed for clinically significant (likely pathogenic/pathogenic) variants previously reported in a family member by the Genomics laboratory for the following genes: APC, ATM, BARD1, BMPR1A (only sequencing), BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM (deletion only), MLH1, MSH2, MSH6, MUTYH, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.  Testing may be performed for predictive testing or to establish a genetic diagnosis for clinical findings.  This testing will not detect variants outside of the regions examined. 
 
Testing for variants of unknown/uncertain significance is not performed without laboratory consultation and approval. 

Test Indications: Various

Ordering restricted to: Medical Genetics

Recommendations: Testing is limited to Medical genetics

 
Collection Devices:
Specimen Required:
Whole Blood: 8.0 mL

Adult: Blood 8.0 mL (2 EDTA tubes required)
Special Processing: Do NOT centrifuge.  Specimen is forwarded to Health Sciences Centre MS551 for analysis.
Specimen Stability: 
Ambient: Preferred
Refrigerated: Accepted
Frozen:   Accepted - must remain frozen
Other comments: Specimens sent for Molecular tests are not to be used for other tests (i.e. CBC).
Referral:
Requisition:
Reference Values:
An interpretive report will be sent. 
Availability:
Weekdays
Routine TAT is 12 weeks. STAT TAT 4- 6 weeks may be requested following laboratory consultation. Testing for variants of unknown/uncertain significance is not performed without laboratory consultation and approval
See Also:
More Information: