BECKWITH WIEDEMANN SYNDROME

Beckwith-Wiedemann syndrome (BWS) is characterized by abnormal growth. Individuals typically have neonatal hypoglycemia, macrosomia, macroglossia, cleft palate, hemihyperplasia, omphalocele, visceromegaly, adrenocortical cytomegaly, renal abnormalities, nevus flammeus, and ear creases or pits. Patient's with BWS also possess an increased risk for embryonic tumors. Clinical presentation is extremely variable—affected individuals may only have one or two identifiable features. For individuals with BWS, treatment of hypoglycemia is the primary focus. Treatment of other manifestations of BWS is applied depending on what symptoms a person has- i.e. abdominal wall repair can be done soon after birth for omphalocele, management of cleft palate or facial hemihyperplasia may be referred to a craniofacial surgeon.

Beckwith-Wiedemann syndrome has been found in patients with defects in gene expression at chromosome region 11p15. A clinical diagnosis may be confirmed by genetic testing. DNA analysis can identify genomic alterations in the 11p15 region, specifically the H19 and KCNQ1OT1 genes. Other causes of BWS include paternal uniparental disomy (UPD) on 11p15 (20%), copy number changes of 11p15 (9%), and mutations in CDKN1C gene (10% sporadic cases and 40% familial cases). LOI of the H19 gene has been shown to increase the risk of Wilms tumor development in BWS patients.

This assay employs MS-MLPA probes specifically designed for BWS chromosome region 11p15.5. Bioinformatics analysis is then performed by commercially available software package Coffalyser.Net (V 0.1) designed by MRC-Holland. MS-MLPA effectively detects about 80% of the patients with BWS caused by IC1/IC2 methylation abnormalities, 11p15.5 UPD, and copy number variants of chromosome 11p15.5.

CPT Code: 81401

Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)

For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.

Turn-around-time: 21 days

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