Hemophilia A (F8) Deletion/Duplication
2001751
 
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION fromARUPs 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
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
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, contact interface support at interface.support@aruplab.com.
Cross References
  • F8 (Hemophilia A (F8) Deletion/Duplication)
  • Factor VIII (Hemophilia A (F8) Deletion/Duplication)