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Leukocyte Adhesion Deficiency Type 1

Leukocyte adhesion deficiency type 1 (LAD-1) is a phenotypically variable immune deficiency characterized by recurrent bacterial and fungal infections, slow wound healing, periodontitis and impaired pus formation. Delayed separation of the umbilical cord may be the first sign of the disorder in an infant. Patients have absent or severely reduced expression of beta-2 integrin (CD18 […]

Leukocyte adhesion deficiency type 1 (LAD-1) is a phenotypically variable immune deficiency characterized by recurrent bacterial and fungal infections, slow wound healing, periodontitis and impaired pus formation. Delayed separation of the umbilical cord may be the first sign of the disorder in an infant. Patients have absent or severely reduced expression of beta-2 integrin (CD18 antigen) on the surface of their leukocytes. CD18 antigen is involved in adhesion and transmigration of human leukocytes in vivo, and thus patients with LAD-1 have impaired accumulation of myeloid leukocytes at extravascular sites. Treatment by bone marrow transplantation has been successful in several reported cases.

A severe and very rare form of LAD, known as LAD-2, has been identified and linked to a different gene, SLC35C1, in MIM 266265, Congenital Disorder of Glycosylation Type IIc. LAD-2 patients also have growth and mental retardation. This test does not examine SLC35C1.

Tests Available

ITGB2 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ITGB2
Clinical Utility:
  • Confirmation of clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
146
Turnaround Time:
3 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Buccal Brushes

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
ICD-9 Codes:
  • 279.9: Unspecified disorder of immune mechanism
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Roos D et al, 2002, Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. Exp Hematol 30:252, 2002
  2. Springer, TA, et al., 1984, Inherited deficiency of the Mac-1, LFA-1, p150,95 glycoprotein family and its molecular basis. J. Exp. Med. 160: 1901-1918

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