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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:

Gene	Mutations	Common Ethnicity
BRCA1	c.68_69del	AJ
BRCA1	c.5266dupC	AJ
BRCA2	c.5946del	AJ
BRCA1	c.181T>G	European
BRCA1	c.4035del	European
BRCA1	c.1387_1390delAAAAinsGAAAG	First Nations
BRCA1	c.4327C>T	Hutterite
BRCA2	c.7443delT	Hutterite
BRCA2	c.771_775del	Icelandic
BRCA2	c.5238dupT	Mennonite

Please specify ethnicity on the requisition.
Ordering restricted to: Medical Genetics
Recommendations: Testing is limited to Medical genetics

Collection Devices:

Preferred Device:

2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection

EDTA 4 mL NO GEL Tube(s) - Full Tube Collection
Manufacturer: Becton Dickinson & Company

Catalogue #: 367861

Specimen Required:

Whole Blood: 8.0 mL

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:

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

Reference Values:

An interpretive report will be sent.

Availability:

Within 12 Weeks

Routine TAT is 12 weeks. STAT TAT 4- 6 weeks may be requested following laboratory consultation