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HelpTest ID DOCK8 Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood
Ordering Guidance
This flow cytometry test is complementary to genetic testing.
Shipping Instructions
Specimens are required to be received in the laboratory weekdays and by 4 p.m. on Friday. Collect and package specimen as close to shipping time as possible.
It is recommended that specimens arrive within 24 hours of collection.
Samples arriving on the weekend and observed holidays may be canceled.
Necessary Information
Ordering physician name and phone number are required.
Specimen Required
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Secondary ID
608112Useful For
Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency
This test is not useful for assessing DOCK8 carrier status.
Method Name
Flow Cytometry
Reporting Name
DOCK8 Deficiency, BSpecimen Type
Whole Blood EDTASpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Ambient | 48 hours | PURPLE OR PINK TOP/EDTA |
Clinical Information
Dedicator of cytokinesis 8 (DOCK8) is an atypical guanine exchange factor that plays a role in regulating actin polymerization and cytoskeletal rearrangement. DOCK8 is important in both innate and adaptive immunity by contributing to cellular migration, cytotoxicity, antibody production, and immunological memory.
DOCK8 deficiency is a rare, combined immunodeficiency with an autosomal recessive inheritance that typically presents in childhood. Its clinical features include atopic disease, recurrent sinopulmonary infections, cutaneous viral infection, Staphylococcus aureus skin infections, and cancer.
DOCK8 deficiency is diagnosed based on clinical phenotype, immunologic findings, and molecular analysis.
Diseases in the differential diagnosis include Job syndrome (AD-HIES), ZNF341 deficiency, and severe atopic dermatitis.
Assessment of DOCK8 expression on immune cells is an important component and facilitates the diagnosis of this condition and the timely treatment of the patient.
Reference Values
The appropriate reference values will be provided on the report.
Cautions
This test cannot be relied upon for identifying carrier status for dedicator of cytokinesis 8 deficiency.
Day(s) Performed
Monday through Friday
Report Available
2 to 4 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
86356 x 4