BRCA1&2 Ashkenazi Mutations
General Information
Lab Name
BRCA1&2 Ashkenazi Mutations
Lab Code
BRCAAJ
Epic Name
BRCA 1&2 Ashkenazi Mutations
Description
The BRCA1&2 Ashkenazi Mutations test uses next-generation sequencing to detect the 3 most common BRCA1&2 mutations seen in individuals of Ashkenazi Jewish heritage; BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT. This assay is intended for the three mutations indicated.
For full sequencing and deletion/duplication analysis of the BRCA1&2 genes, see BRCA1&2 Analysis [BRCA12]
For patients with a suspected hereditary cancer syndrome, including hereditary breast and ovarian cancer syndrome, see BROCA Cancer Risk Panel [BROCA]
Synonyms
Ashkenazi Jewish Panel, Breast Cancer Risk
Components
| Code | Name |
|---|---|
| BRCJRE | BRCA1&2 Ashkenazi Jew Result |
| BRCJIN | BRCA1&2 Ashkenazi Jew Interp |
| BRCJCH | BRCA1&2 Ashkenazi Clin History |
| BRCJMT | BRCA1&2 Ashkenazi Jew Method |
| BRCJDI | BRCA1&2 Ashkenazi Jew Director |
Interpretation
Method
Next-generation sequencing
Reference Range
See individual components
Ordering & Collection
Specimen Type
Collection
BLOOD:
- 10 mL whole blood in LAVENDER TOP EDTA tube.
- Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.
SKIN BIOPSY:
- Collection and transport: Obtain 2-4 mm punch biopsy of skin sample under sterile conditions and place in transport media (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206-598-4488 to request. If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline. DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.
CULTURED CELLS:
- (2) T23 or (1) T75 flask (minimum 1-T25 flask)*.
*Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide Maternal Cell Contamination, Fetal [MCC] for ordering and specimen requirements)
Forms & Requisitions
Requisition Form and Ordering Instructions:
- Fill out a Genetics Requisition
- Check "BRCA 1/2 - Ashkenazi Jewish 3-site"
Preauthorization Form (preauthorization is only done for providers who are external to the UW system)
Handling Instructions
Ship specimen at room temperature for overnight delivery.
Blood specimens can be held for up to 7 days before shipping if refrigerated.
Ship specimens to:
UW MEDICAL CENTER
LABORATORY MEDICINE - GENETICS LAB
1959 NE PACIFIC ST, ROOM NW220
SEATTLE, WA 98195-7110
Quantity
requested: Entire sample
minimum: 5 mL whole blood
Processing
Blood: Refrigerate whole blood
Unacceptable Conditions: Frozen or clotted specimens
Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable
Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.
SALIVA:
Contact laboratory for validated collection kit.
Performance
LIS Dept Code
Genetics (GEN)
Performing Location(s)
| UW-MT |
Genetics
Attention: Genetics Lab Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Tel (EXOME only): 206-543-0459 |
Faculty |
|---|
Frequency
Results within 4-6 weeks, from sample receipt in laboratory.
Available STAT?
No
Billing & Coding
CPT codes
Billing Comments
For billing information, see BRCA1&2 Ashkenazi Mutations Billing
For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).
Email: gpab@uw.edu or call 1-855-320-4869 for more information.
LOINC
Interfaced Order Code
UOW2852