Cost 
$840.00
TAT 
4 weeks
CPT Code 
81404
Test Code 
1116
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA

Beckwith-Wiedmann syndrome [BWS, MIM# 130650] is an overgrowth syndrome, involving predisposition to tumor development. The clinical presentation is highly variable and includes macrosomia, macroglossia, visceromegaly, embyronal tumors, omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly and renal anomalies.

IMAGe syndrome [MIM#614732] is an acronym: I = intrauterine growth retardation; M = metaphyseal dysplasia; A = adrenal hypoplasia congenital; Ge = genital anomalies. Patients can present shortly after birth with severe adrenal insufficiency, which can be life threatening. Other reported features include hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate and scoliosis.

Mutations of the CDKN1C [OMIM #171833] gene have been identified in patients with BWS and IMAGe syndrome.