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7006: DiGeorge Syndrome/Velocardiofacial Syndrome

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
7006 DiGeorge Syndrome / Velocardiofacial Syndrome 6 weeks $1,100.00 $1,200.00 81406 81479
TBX1 sequening

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About DiGeorge Syndrome/Velocardiofacial Syndrome

TBX1 is a tbox transcription factor gene involved with regulation of developmental processes. TBX1 is in chromosome 22 q11 regions. The deletion of chromosome 22q11.2 causes DiGeorge Syndrome/Velocardiofacial syndrome. DiGeorge syndrome and velocardiofacial syndrome are also called 22q11.2 deletion syndrome. The clinical features include congenital heart disease, particularly conotruncal malformations, such as interrupted outflow tract and truncus arteriolosis. Patients with 22q11.2 deletions also present with valopharyngial incompetence, submucosal cleft-palate, and cleft palate, and many patients also present with peculiar facial features. In the DiGeorge situation, patients also present with hypocalcemia and immune deficiencies. The mutation of TBX1 also causes clinical phenotypes which are very similar to DiGeorge/ Velocardiofacial syndrome, however, patients with these mutations generally do not have mental deficiencies. TBX1 mutations cause autosomal dominant inheritance of disease.