Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
The preferred test for confirming a diagnosis of X-linked agammaglobulinemia in males and identifying carrier females is BTKFP / Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full Gene Sequence and Flow Cytometry
For cases where the differential diagnosis remains broad, BTK may be evaluated as part of a larger genetic panel, see BCLGP / B-Cell Deficiency Primary Immunodeficiency (PID) Gene Panel.
1. Bruton Tyrosine Kinase (BTK) Genotype Patient Information (T620) is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.
2. Include physician name and phone number with specimen.
Multiple whole blood EDTA genotype tests can be performed on a single specimen after a single extraction. See Multiple Whole Blood EDTA Genotype Tests in Special Instructions for a list of tests that can be ordered together.
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send specimen in original tube.
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:
Specimen Type | Temperature | Time | Special Container |
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Whole Blood EDTA | Refrigerated (preferred) | ||
Ambient |