Hemophilia B (F9) Sequencing
2001578
 
Ordering Recommendation
Order to sequence the F9 gene to identify the causal mutation in individuals with established hemophilia B or for carrier testing.
Mnemonic
F9 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 21 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 B (F9) Sequencing:
Characteristics:
Severe deficiency of factor IX clotting activity is associated with spontaneous joint or deep tissue bleeding. Moderate or mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing.
Incidence:
1 in 25,000 males worldwide.
Penetrance:
100 percent in males and 10 percent in females.
Inheritance:
X-linked recessive.
Cause:
Deleterious F9 gene mutations.
Clinical Sensitivity:
97 percent.
Methodology:
Bidirectional sequencing of the entire F9 coding region and intron-exon boundaries and proximal promoter.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Deep intronic mutations and gene duplications will not be detected in patients of either sex; large deletions will not be detected in females.



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)
81405
Components
Component Test Code*Component Chart Name
2001580Hemophilia B Interpretation
2001581F9 FGS 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
  • Christmas Disease (Hemophilia B (F9) Sequencing)
  • F9 (Hemophilia B (F9) Sequencing)
  • Factor IX Sequencing (Hemophilia B (F9) Sequencing)