Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
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.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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.
AliasesOther names that describe the test. Synonyms.
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