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HelpTest Code F81B Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood
Reporting Name
HA F8 Intron 1 Inversion KM, BPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified
Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family history of severe hemophilia A due to F8 intron 1 inversion
Method Name
Polymerase Chain Reaction (PCR)
Ordering Guidance
If a familial variant has not been identified in a severely affected hemophilia A patient, order F8INV / Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood.
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 nonperipheral 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, Blood 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 Type
Whole bloodSpecimen 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 |
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
Reference Values
An interpretive report will be provided.
Interpretation
The interpretive report will include assay information, background information, and conclusions based on the test results.
Day(s) Performed
Weekly
Report Available
14 to 21 daysTest 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 |
|---|---|---|
| F81B | HA F8 Intron 1 Inversion KM, B | 81762-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 35137 | HA F8 Int1 KM Reason for Referral | 42349-1 |
| 35001 | HA F8 Intron 1 Inversion KM, B | 81762-7 |
| 35002 | F81B Interpretation | 69047-9 |
| 35003 | HA F8 Int1 KM Reviewed By | 18771-6 |
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.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| MATCC | Maternal Cell Contamination, B | Yes | No |
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, Blood is required to perform this test. See Additional Testing Requirements.
The following algorithms are available: