Hemophilia A (F8) Sequencing
2001747
Ordering Recommendation
Order to sequence the F8 gene to identify the causal mutation in individuals with established mild to moderate hemophilia A. For severe hemophilia A, Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication (2001614) is recommended.
Mnemonic
F8 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 28 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) Sequencing:
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:
98 percent of mutations causing mild to moderate hemophilia A and 43 percent of severe hemophilia A mutations are detected by sequencing.
Methodology:
Bidirectional sequencing of the entire F8 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations and gene duplications will not be detected in patients of either sex; large deletions will not be detected in females.





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)
81407
Components
Component Test Code*Component Chart NameLOINC
2001749Hemophilia A (F8) Sequencing Interp 
2001750F8 FGS Specimen 
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Aliases
  • F8
  • Factor VIII
  • Hemophilia A mild or moderate, molecular assay
  • Hemophlia A sequencing assay