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Test Code FH CEBPA CEBPA DNA Screen

Clinical System Name

CEBPA Mutation DNA Screen

Description

Mutations in the transcription factor CCAAT/enhancer binding protein alpha (CEBPA) are found in ~5% to 10% of acute myeloid leukemia (AML) with normal cytogenetics.  Mutational screening of CEBPA in addition to FLT3-ITD and NPM1 is recommended for new cases of AML.

Sample Requirements

Specimen:  Whole Blood or Bone Marrow

Container(s):  Lavender/EDTA (preferred) or Dark Green/Sodium Heparin

Preferred Vol:  6.0 mL blood; 1-2 mL bone marrow

Minimum Vol:  no micro collection

 

Note:  Record specimen type and date/time of collection on label.

While green top tubes are accepted for testing, there is documentation that heparin can interfere with some PCR assays.

For more detailed info for bone marrow testing, see separate Bone Marrow Aspirate listing .

Processing Instructions

Reject due to:  ?

Spin:  N

Aliquot:  N

Temp:  2-4 C

Notes:  Affix large label to vacutainer.

Storage location:  Store sample in CPA refrigerator sendouts rack, including after hours and on weekends.  Sample will be sent next weekday.

 

Off-site collection:  Contact UW Hematopathology at (206) 288-7060 for instructions.

Stability

Specimen Type Temperature Time
  Room temp 1 day
  Refrigerated 72 hours
  Frozen N

 

Availability

STAT Performed TAT
N Mon - Fri from 0800 - 1500. 2 weeks from day after receipt

 

Performing Laboratory

University of Washington

Dept. of Laboratory Medicine

UW Molecular Hematopathology Laboratory

1959 NE Pacific St, NW 220

Seattle, WA 98195

 

Phone Number: (206) 288-7070

Department

Department: Send Outs

 

Phone Number: (206) 987-2563

 

Reference Range

none specified

Methodology

Method:  PCR

Analytical Volume:  None specified

Limitations:  None specified

CPT Codes

81218 (updated 01/01/16 by sstasi)

Special Instructions

Links to:

Consent Forms

Algorithms

Requisition

Place test orders in CIS.

For bone marrow, use CIS order "HemOnc Bone Marrow Requisition" or "Hematopoietic Transplant Marrow Requisition", as appropriate.

Clinical Utility

Recent literature suggests that patients with double (biallelic), but not

single (monoallelic) CEBPA mutations have a favorable prognosis. This assay is designed to distinguish biallelic from monoallelic CEBPA mutations. The initial test is a PCR capillary electrophoresis sizing assay of the C-terminal bZIP region that detects >95% of patients with double CEBPA mutations. Patients who are positive by the C-terminal sizing assay (~5-10% of all new cases of AML) go on to further testing to detect an N-terminal mutation. If no N-terminal mutations are detected by sizing assays, the specimen will be reflexed to complete CEBPA gene sequencing to identify rare point mutations.

Send Out Instructions

 

Reference Test Name: CEBPA Mutations DNA Screen
Reference Test Number: CEBPA
Instructions: Send on next available shuttle to UW Molecular Hematopathology 825 Eastlake Ave. If provider desires for same day set up sample must reach UW Hematopath by 830 am.