BRCA1&2 Ashkenazi Mutations

single page view

General Information

Lab Name
BRCA1&2 Ashkenazi Mutations
Lab Code
BRCAAJ
Epic Ordering
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]

Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition
  2. Check "BRCA 1/2 - Ashkenazi Jewish 3-site"

Preauthorization Form (preauthorization is only done for providers who are external to the UW system)

Synonyms
Ashkenazi Jewish Panel, Breast Cancer Risk
Components

Interpretation

Method

Next-generation sequencing

Reference Range
See individual components

Ordering & Collection

Specimen Type
Peripheral Blood, cultured cells from skin biopsy, purified DNA from peripheral blood or cultured cells, and saliva
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 [[MCC]] for ordering and specimen requirements)

Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition
  2. 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

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
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.edu

Tel (EXOME only): 206-543-0459

Manager

Joe Bernal, jbernal@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Sandra Coe, MS,LGC, scoe20@uw.edu
Dru Leistritz, MS, LGC, dru2@uw.edu (EXOME testing only)
Daniel W. Serber, PhD, MS, LCGC, dwserber@uw.edu

Variant Review Scientist

Ankita Jhuraney, PhD
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Catherine A. Darcey, MSc

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Niklas Krumm, MD,PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG

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.

Genetics Preauthorization Form

LOINC
59041-4
Interfaced Order Code
UOW2852