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HelpTest 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, 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 |
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 |