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Test Code LAD1 Leukocyte Adhesion Deficiency Type 1, CD11a/CD18 and CD11b/CD18 Complex Immunophenotyping, Blood

Reporting Name

Leukocyte Adhesion Def. Type 1, B

Useful For

Aiding in the diagnosis of leukocyte adhesion deficiency syndrome type 1, primarily in patients younger than 18 years

 

CD11a, CD11b, and CD18 phenotyping

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Shipping Instructions


Testing is performed Monday through Friday. Specimens not received by 4 p.m. (CST) on Friday may be canceled.

 

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

 

Specimens arriving on the weekend and observed holidays may be canceled.



Necessary Information


Date and time of collection and healthcare professional name and phone number are required.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 5 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

Additional Information: For serial monitoring, it is recommended that specimens are collected at the same time of day.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Ambient 72 hours PURPLE OR PINK TOP/EDTA

Reference Values

Normal (reported as normal or absent expression for each marker)

Day(s) Performed

Monday through Friday

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 US Food and Drug Administration.

CPT Code Information

86356 x 3

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LAD1 Leukocyte Adhesion Def. Type 1, B 94266-4

 

Result ID Test Result Name Result LOINC Value
81155 Leukocyte Adhesion Deficiency, B No LOINC Needed
430 CD11a 94268-0
388 CD11b 94267-2
431 CD18 94265-6
432 LAD Interpretation 69052-9

Interpretation

The report will include a summary interpretation of the presence or reduction in the level of expression of the individual markers (CD11a, CD11b, and CD18). Expression of the individual markers provides indirect information on the presence or absence of the CD11a/CD18 and CD11b/CD18 complexes.

 

Specimens obtained from patients with leukocyte adhesion deficiency syndrome type 1 (LAD-1) show significant reduction (moderate phenotype) or near absence (severe phenotype) of CD18 and its associated molecules, CD11a and CD11b, on neutrophils and other leukocytes.

 

CD11c expression also is low in LAD-1. The analytical sensitivity of the CD11c assay is insufficient to allow interpretation of CD11c surface expression. Therefore, this test is only for the expression of CD18, CD11a, and CD11b.

Clinical Reference

1. Anderson DC, Springer TA. Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins. Ann Rev Med. 1987;38:175-194

2. Corbi AL, Vara A, Ursa A, et al. Molecular basis for a severe case of leukocyte adhesion deficiency. Eur J Immunol. 1992;22(7):1877-1881

3. Harlan JM. Leukocyte adhesion deficiency syndrome: insights into the molecular basis of leukocyte emigration. Clin Immunol Immunopathol. 1993;67(3 PT2):S16-S24

4. O'Gorman MR, McNally AC, Anderson DC, et al. A rapid whole blood lysis technique for the diagnosis of moderate or severe leukocyte adhesion deficiency (LAD). Ann NY Acad Sci. 1993;677:427-430

5. Hogg N, Stewart MP, Scarth SL, et al. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. J Clin Invest. 1999;103(1):97-106

6. Kuijpers TW, van Lier RAW, Hamann D, et al. Leukocyte adhesion deficiency type 1 (LAD/1) variant. J Clin Invest. 1997;100(7):1725-1733

7. Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci. 2012;1250:50-55

8. Schmidt S, Moser M, Sperandio M. The molecular basis of leukocyte recruitment and its deficiencies. Mol Immunol. 2013;55(1):49-58

9. Delmonte OM, Fleisher TA. Flow cytometry: Surface markers and beyond. J Allergy Clin Immunol. 2019;143(2):528-537

10. Knight V, Heimall JR, Chong H, et al. A toolkit and framework for optimal laboratory evaluation of individuals with suspected primary immunodeficiency. J Allergy Clin Immunol Pract. 2021;9(9):3293-3307.e6

Report Available

3 to 4 days

Method Name

Flow Cytometric Immunophenotyping