Hemophilia A (F8) 2 Inversions, Fetal
2001755
Ordering Recommendation
Prenatal testing for Hemophilia A caused by a familial F8 gene intron 22-A or intron 1 inversion.
Mnemonic
F8 INV FE
Methodology
Inverse Polymerase Chain Reaction/Electrophoresis
Performed
Varies
Reported
Within 10 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Fetal Specimen: Two T-25 flasks at 80% confluent of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.
Maternal Specimen:
Lavender (EDTA) or yellow (ACD Solution A or B).  
Specimen Preparation
Cultured amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluent of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete.
Maternal Specimen:
Transport 3 mL whole blood.  
Storage/Transport Temperature
Cultured amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Specimen:
Room temperature. Ship with the fetal specimen.  
Unacceptable Conditions
  
Remarks
Maternal sample is recommended for proper test interpretation; order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.  
Stability
Fetal: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal
: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Hemophilia A (F8) 2 Inversions, Fetal:
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:
51 percent of mutations causing severe hemophilia A are detected by F8 inversion testing. This assay does not detect F8 mutations associated with mild or moderate hemophilia A in males.
Methodology:
Intron 22-A and intron 1 inversions detected by inverse PCR and electrophoresis.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. F8 mutations, other than the F8 intron 22-A and intron 1 inversions, will not be detected.

For quality assurance purposes, ARUP Laboratories will provide a confirmation of the above result at no charge. Following delivery, please collect a cord blood sample from the infant in a lavender (EDTA) or yellow (ACD Solution A or B) top tube and transport 1mL cord blood at 2-8°C. Please specify on the test request form that this is a confirmatory study to be performed at no charge. Please provide the mother's name for specimen identification purposes.





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)
81403;
Fetal Cell Contamination (FCC): 81265
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Cell Contamination, Fetal Spec35457-1
0050612Maternal Cell Contam, Maternal Spec40704-9
2001758F8 INV FE Specimen 
2001761Hemophilia A (F8) Inversions Interp 
* 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
  • Fetal Carrier Detection of Hemophilia A
  • Fetal DNA Analysis for Hemophilia A
  • Fetal Factor VIII Deficiency assay
  • Fetal Hemophilia A Carrier Detection and Prenatal Diagnosis