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Test Code DOCK8 Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood


Ordering Guidance


This flow cytometry test is complementary to genetic testing.



Shipping Instructions


Testing is performed Monday through Friday. Specimens not received by 4 p.m. (CST) on Friday may be canceled.

 

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 healthcare professional 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.


Method Name

Flow Cytometry

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Ambient 48 hours PURPLE OR PINK TOP/EDTA

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus OK

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.

Day(s) Performed

Monday through Friday

Report Available

2 to 4 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

86356 x 4