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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.


Useful 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, B

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

Reference Values

The appropriate reference values will be provided on the report.

Interpretation

The results will be reported as the percentage of dedicator of cytokinesis 8 (DOCK8) expression on T cells, B cells, natural killer (NK) cells, and monocytes.

 

The absence of DOCK8 expression on all cell types will be consistent with DOCK8 deficiency. In this case, genetic analysis of DOCK8 to confirm the diagnosis and to identify the underlying alteration will be recommended.

 

The expression of DOCK8 on a subset of T cells and/or NK cells could suggest somatic reversion in a patient with DOCK8 deficiency, which can modulate disease phenotype over time.

Clinical Reference

1. Engelhardt KR, McGhee S, Winkler S, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol. 2009; 124(6):1289-302 e4. doi:10.1016/j.jaci.2009.10.038

2. Jing H, Zhang Q, Zhang Y, et al. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J Allergy Clin Immunol. 2014;133(6):1667-1675. doi:10.1016/j.jaci.2014.03.025

3. Pai SY, de Boer H, Massaad MJ, et al. Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency. J Allergy Clin Immunol. 2014;134(1):221-223. doi:10.1016/j.jaci.2014.02.023

4. Engelhardt KR, Gertz ME, Keles S, et al. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015;136(2):402-412. doi:10.1016/j.jaci.2014.12.1945

5. Su HC, Jing H, Angelus P, Freeman AF. Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. Immunol Rev. 2019;287(1):9-19. doi:10.1111/imr.12723

6. Aydin SE, Freeman AF, Al-Herz W, et al. Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency. J Allergy Clin Immunol Pract. 2019;7(3):848-855. doi:10.1016/j.jaip.2018.10.035

Day(s) Performed

Monday through Friday

Report Available

2 to 4 days

Performing 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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DOCK8 DOCK8 Deficiency, B 96415-5

 

Result ID Test Result Name Result LOINC Value
608496 %CD3+DOCK8+ 96416-3
608497 %CD19+DOCK8+ 96417-1
608498 %CD56+DOCK8+ 96418-9
608499 %CD14+DOCK8+ 96419-7
608513 DOCK8 Interpretation 69052-9