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


Advisory Information


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 specimen in original tube. Do not aliquot.


Useful For

Aids in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency

Genetics Test Information

The human DOCK8 gene is on chromosome 9.

 

Autosomal recessive germline pathogenic variants observed in dedicator of cytokinesis 8 (DOCK8) deficiency fall into the following main categories:

-Large homozygous deletions

-Compound heterozygous large deletion plus pathogenic missense variant (point mutation) or a small insertion/deletion (indel)

-Compound heterozygous pathogenic missense variants plus small insertions/deletions

 

A study of 34 patients with DOCK8 deficiency has shown variable degrees of somatic reversion in half of the cohort, mainly in memory T cells and NK cells. The extent of somatic reversion is inversely correlated with cumulative disease burden. This type of repair cannot happen in cases with large homozygous deletions.

Highlights

The test detects the expression of dedicator of cytokinesis 8 (DOCK8) in T cells, B cells, NK cells, and monocytes in the peripheral blood.

 

It can be used as a screening step prior to genetic testing for DOCK8; to confirm the finding of an established pathogenic alteration in DOCK8 at the protein level; to examine a reported variant of undetermined significance (VUS); and to evaluate the potential presence of somatic reversion in a patient with DOCK8 deficiency.

 

It can help distinguish DOCK8 deficiency from conditions with overlapping clinical manifestations, including Job syndrome (AD-HIES), ZNF341 deficiency, and severe atopic dermatitis.

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.

Day(s) and Time(s) Performed

Monday through Friday

Specimen must be received by 4p.m. on Friday.

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 U.S. 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 In Process

 

Result ID Test Result Name Result LOINC Value
608496 %CD3+DOCK8+ In Process
608497 %CD19+DOCK8+ In Process
608498 %CD56+DOCK8+ In Process
608499 %CD14+DOCK8+ In Process
608513 DOCK8 Interpretation 69052-9

NY State Approved

No