Test ID: F822B    
Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood

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 also required to perform this test. (See Specimen Required for more details.)

The following algorithms are available in Special Instructions:

-Hemophilia Carrier Testing Algorithm

-Hemophilia Testing Algorithm

If a familial mutation has not been identified in a severely affected hemophilia A patient the F8 gene intron 1 and 22 inversion analysis (F8INV / Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood) should be ordered.

For evaluation of a patient with bleeding symptoms and no known personal history of a bleeding disorder consider BDIAL / Bleeding Diathesis Profile, Limited or the specific factor assays.

Due to the complexity of testing non-peripheral blood, consultation with the laboratory is required for all cord blood samples. Order F822B / Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood on the cord blood specimen (only 1 sample tube required) and order MATCC / Maternal Cell Contamination, Molecular Analysis, Blood on the maternal specimen.

Hemophilia A Patient Information is required, see Special Instructions. 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.

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 (sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

• Informed Consent for Genetic Testing
• Hemophilia Carrier Testing Algorithm
• Hemophilia Testing Algorithm
• Hemophilia A Patient Information
• Informed Consent for Genetic Testing (Spanish)

1. 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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.