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Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication

F8-COMP
Example Reports
Negative
Positive 1
Positive 2
Positive 3
Positive

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Patient History Form for Hemophilia A Gene Testing

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Additional Technical Information

Ordering Recommendation

Use to detect causal F8 variant in individuals with severe hemophilia A or to determine carrier status for at-risk females with severely affected male relatives. For mild to moderate hemophilia A, Hemophilia A (F8) Sequencing (3004241) is preferred.

Methodology

Inverse Polymerase Chain Reaction/Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

7-14 days
If reflexed, add 3-4 weeks.

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens. Saliva. Buccal brush or swab, FFPE tissue, DNA.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report.

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA-certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

F8 inversion testing is performed on all specimens. If inversion testing does not explain the clinical scenario, then F8 gene sequencing will be added. If sequencing does not explain the clinical scenario, then deletion/duplication testing will be added. Additional charges apply.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
11/15/2021
X
N/A

CPT Codes

81403; if reflexed to NGS, add 81407; if reflexed to Del/Dup, add 81406

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Components

Component Test Code* Component Chart Name LOINC
2001616 Family History for Hemophilia A (F8) 8670-2
2001617 F8 COMP Specimen 66746-9
2001618 Symptoms for Hemophilia A (F8) 75325-1
3004236 Hemophilia A (F8) Interpretation 82939-0
* 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

  • DNA analysis for F8 deficiency
  • DNA analysis for hemophilia A
  • factor VIII genetic analysis
  • hemophilia A carrier screening
  • hemophilia A carrier status
  • Hemophilia A molecular cascade
  • hemophilia A mutation evaluation
  • hemophilia A reflex panel
  • severe hemophilia A comprehensive reflex panel
Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication