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HelpTest 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.
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, BSpecimen Type
Whole Blood EDTASpecimen 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 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
86356 x 4