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

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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 A short description of the method used to perform the test

Flow Cytometry

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

DOCK8 Deficiency, B

Aliases Lists additional common names for a test, as an aid in searching

DOCK8 Deficiency
DOCK8
Dedicator of Cytokinesis 8