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HelpTest Code F8INV Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
Useful For
First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family
Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family history of severe hemophilia A
Testing Algorithm
Maternal cell contamination testing will be performed for all cord blood specimens. A maternal whole blood sample with an order for MATCC / Maternal Cell Contamination, Molecular Analysis, Varies is also required to perform this test. See Additional Testing Requirements.
The following algorithms are available:
Special Instructions
Reporting Name
HA F8 Intron 1/22 Inversion, BSpecimen Type
Whole bloodOrdering Guidance
For evaluation of a patient with bleeding symptoms and no known personal history of a bleeding disorder, consider ALBLD / Bleeding Diathesis Profile, Limited, Plasma or the specific factor assays.
Additional Testing Requirements
Due to the complexity of testing non-peripheral blood, consultation with the laboratory is required for all cord blood samples. Order this test on the cord blood specimen (only 1 specimen tube required) and order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Necessary Information
Hemophilia A Patient Information(T712) is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD) or blue top (3.2% sodium citrate)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | 7 days | |
| Frozen | 7 days | ||
| Refrigerated | 7 days |
Day(s) Performed
Weekly
Report Available
14 to 21 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81403
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| F8INV | HA F8 Intron 1/22 Inversion, B | 81761-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 35760 | HA F8 Int 1/22 Reason for Referral | 42349-1 |
| 35761 | HA F8 Intron 1/22 Inversion, B | 81761-9 |
| 35762 | F8INV Interpretation | 69047-9 |
| 35763 | HA F8 Intron 1/22 Reviewed By | 18771-6 |
Reference Values
An interpretive report will be provided.
Method Name
Polymerase Chain Reaction (PCR) or Inverse Shifting-Polymerase Chain Reaction (IS-PCR)
Forms
1. Hemophilia A Patient Information (T712) is required.
2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
3. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.