Laboratory: Genomics  (MOLECULAR DIAGNOSTICS)
Test Name:
HEREDITARY BREAST AND OVARIAN CANCER SYNDROME, ETHNIC SPECIFIC MUTATIONS - BRCA1, BRCA2 GENES - (B)
Test Code: MD
Clinical Information:
Test Indications: Common variants in BRCA1 and BRCA2 genes can be tested depending on ethnicity or family history. Can only be ordered by Medical Geneticists who see patients for pre- and post- counselling.  Ethnic variants tested listed below:
GeneMutationsCommon Ethnicity
BRCA1c.68 69delAJ
BRCA1c.5266dupCAJ
BRCA2c.5946delAJ
BRCA1c.181T>GEuropean
BRCA1c.4035delEuropean
BRCA1c.1387_1390delAAAAinsGAAAGFirst Nations
BRCA1c.4327C>THutterite
BRCA2c.7443delTHutterite
BRCA2c.771 775delIcelandic
BRCA2c.5238dupTMennonite

Please specify ethnicity on the requisition.
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

Note that extracted DNA samples can only be accepted from accredited laboratories. For prenatal diagnosis, contact the 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.  Specimen is forwarded to Health Sciences Centre MS551 for analysis.
Specimen Stability: 
Ambient: Preferred - store and ship specimens at room temperature
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:
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: