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Test Code LAB3044 Fanconi Anemia Breakage Study

Important Note

Draw samples Monday - Friday 7AM - 1330 PM ONLY at main lab. Sample must arrive at SCH Main Lab M - F before 1430.

CPA: Please notify Send Outs at (206) 987-2563.

Clinical System Name

Fanconi Anemia Breakage Study

Synonyms

Breakage Study; CH-BKST; DEB Test; Fanconi Anemia; Mutagen Stress Test

Description

Useful for the differential diagnosis between idiopathic aplastic anemia and Fanconi anemia. After treatment with similar doses of bifunctional alkylating agents such as Diepoxybutane (DEB) or Mitomycin C (MMC), Fanconi anemia patients will typically show a greater than 50-fold increase in rates of chromosome breakage compared to concurrent controls or other aplastic anemia patients.

Sample Requirements

Specimen: Whole Blood

Container(s): DARK GREEN NaHep

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL

 

Note: Do not use gel separator tubes or lithium heparin tubes (i.e. no microtainers). Draw samples Monday - Friday 7AM - 1330 PM ONLY. Keep sample at room temperature; deliver promptly to the Main Lab.

Processing Instructions

Reject due to: Clotted or frozen specimen.

Spin: N

Aliquot:N

Temp: RT

Storage location: Keep sample at room temperature. Store specimen and labels in the Send Outs room temperature box in CPA. Notify Send Outs immediately.

 

Off-site collection: Keep sample at room temperature. Deliver promptly to lab.

Stability

Specimen Type Temperature Time
Whole Blood Room temp 24 h
  Refrigerated  
  Frozen  

 

Availability

STAT Performed TAT
N Processed daily 7 - 14 d

 

Performing Laboratory

M Health Fairview

UMMC East Bank

500 Harvard St. SE, Room 3-580
Minneapolis, MN, 55455

 

Phone Number: (612) 273-3171

Department

Department: Send Outs

Phone: (206) 987-2563

 

 

Reference Range

Interpretive report provided.
 

Methodology

Method: Determined by laboratory director based on clinical information. Chromosome breakage analysis.

Analytical Volume: None specified

Limitations:

Clinical Utility

Useful for the differential diagnosis between idiopathic aplastic anemia and Fanconi anemia. After treatment with similar doses of bifunctional alkylating agents such as Diepoxybutane (DEB) or Mitomycin C (MMC), Fanconi anemia patients will typically show a greater than 50-fold increase in rates of chromosome breakage compared to concurrent controls or other aplastic anemia patients.

Fanconi Anemia GeneReviews

Send Out Instructions

Reference Test Name:

Chromosome Analysis, Blood, Fanconi Mutagen Sensitivity

Reference Lab Test Code:

LAB4755

Instructions

Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted.