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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 not performed on Saturday, Sunday, or observed holidays. Only collect and ship specimen for arrival on days when testing is performed.

 

Specimens received on days when testing is not performed or after 5 p.m. Central on Friday will be canceled if specimen is outside of stability when testing is next performed.

 

Collect and package specimen as close to shipping time as possible. It is recommended that specimens arrive within 24 hours of collection.



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.

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 disease-causing missense variant (point alteration) or a small deletion/insertion (delin)

-Compound heterozygous disease-causing missense variants plus small deletions/insertions

 

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.

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

Reject Due To

Gross hemolysis Reject
Gross lipemia Reject
Gross icterus OK

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