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Hemophilia B (F9) Sequencing and Deletion/Duplication
2010494
Ordering Recommendation

Most comprehensive test to confirm diagnosis or determine carrier status for F9 gene mutations.

Mnemonic
F9 FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
28-35 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Hemophilia B (F9) Sequencing and Deletion/Duplication:
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:
Pathogenic F9 gene mutations.
Clinical Sensitivity:
99 percent.
Methodology:
Bidirectional sequencing of the entire F9 coding region and intron-exon boundaries and proximal promoter; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large F9 deletions/duplications.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. The breakpoints of large deletions/duplications will not be determined. Large deletions/duplications in exon 1 may not be detected. Mutations in genes other than F9 will not be detected.

Compliance 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
N/A
Components
Component Test Code*Component Chart NameLOINC
2010495Hemophilia B (F9) Seq, Del/Dup Spcm31208-2
2010496Hemophilia B (F9) Seq, DelDup Interp38896-7
* 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
  • Christmas Disease
  • Factor IX Deficiency