Hemophilia A (F8) Deletion/Duplication
2001751
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering.  Preferred test is Hemophilia A (F8)  Sequencing and Deletion/Duplication reflex.
Mnemonic
F8 DELDUP
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Hemophilia A (F8) Deletion/Duplication:
Characteristics:
Severe deficiency of factor VIII clotting activity leading to spontaneous joint or deep muscle bleeding. Moderate to mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing.
Incidence:
1 in 4,000-5,000 live male births worldwide, rare in females.
Inheritance:
X-linked recessive. Of simplex cases, 85 percent of mothers are carriers and 10-15 percent of boys have a de novo mutation.
Penetrance:
100 percent in males and 10 percent in females.
Cause:
Deleterious F8 gene mutations.
Clinical Sensitivity:
6 percent of mutations causing severe hemophilia A and<1 percent of mild to moderate hemophilia A mutations are detected by deletion/duplication testing.
Methodology:
Multiplex ligation-dependent probe amplification (MLPA) to detect large F8 coding region deletions/duplications.
Analytical Sensitivity & Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Breakpoints for large deletions/duplications will not be determined. F8 base pair substitutions, small deletions/duplications, deep intronic, and regulatory region mutations will not be detected.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81406
Components
Component Test Code*Component Chart Name
2001753Hemophilia A (F8) Del/Dup Interpretation
2001754F8 DELDUP Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • F8
  • Factor VIII
  • Hemophilia A deletion/duplication assay