FAMILY SPECIFIC CANCER GENE VARIANT ANALYSIS - (B)

Test Code: MD

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

 

_SH Hereditary Cancer Molecular Requisition (R250-10-10)

An interpretive report will be sent. 

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

HEREDITARY BREAST AND OVARIAN CANCER SYNDROME, ETHNIC SPECIFIC MUTATIONS - BRCA1, BRCA2 GENES - (B)

HEREDITARY BREAST AND OVARIAN CANCER PANEL (BRCA1, BRCA2, PTEN, TP53, PALB2, STK11, MLH1, MSH2, MSH6, EPCAM) - (B)

LYNCH POLYPOSIS GENE PANEL (MLH1, MSH2, MSH6, EPCAM, APC, MUTYH, STK11, PTEN, BMPR1A, SMAD4, POLD1 AND POLE) - (B)

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)

BRCA1 & BRCA2 GENE ANALYSIS - (B)