22q11.2 deletion syndrome laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Patients diagnosed with or suspected of having DGS should undergo extensive evaluation, particularly if life-threatening cardiac or immunologic deficits are present.
Testing for CBC, T and B lymphocyte panels, Echocardiography, Immunoglobulin levels, Calcium levels are some of the main ones for evaluating DGS.
Laboratory Findings
Patients diagnosed with or suspected of having DGS should undergo extensive evaluation, particularly if life-threatening cardiac or immunologic deficits are present. The following tests should merit consideration:
Echocardiogram to evaluate conotruncal abnormalities
Complete blood count with differential
T and B Lymphocyte subset panels
Flow cytometry to assess T cell repertoire
Immunoglobulin levels
Vaccine titers for evaluation of response to vaccines
Serum ionized calcium and phosphorus levels
Parathyroid hormone level
Chest x-ray for thymic shadow evaluation
Renal ultrasound for possible renal and genitourinary defects
Serum creatinine
TSH
Testing for growth hormone deficiency
It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. Cases involving significant cardiac, thymic, and craniofacial deficits are more easily recognizable than those lacking severe features. Implementation of advancing genomic studies and facial recognition technology in modern medicine may assist in more effective diagnosis and evaluation of DGS patients.[1]
References
- ↑ Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations. Am. J. Med. Genet. A. 2017 Apr;173(4):879-888.