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Beckwith-Wiedemann

 

Gene Reviews

Beckwith-Wiedemann Syndrome (BWS) H19 and LIT1 Methylation Panel

Beckwith-Wiedemann syndrome is characterized by abnormal growth.  Individuals typically have neonatal hypoglycemia, macrosomia, macroglossia, cleft palate, hemihyperplasia, omphalocele, embryonal tumors, visceromegaly, adrenocortical cytomegaly, renal abnormalities, and ear creases or pits.  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. Hypomethylation of the LIT1 gene is expected to detect 50% of patients with BWS. Hypermethylation of the H19 gene is expected to detect up to 5% of individuals with BWS.

Methodology: Methylation-specific (MS-MLPA) Methylation studies of H19 and LIT1 are performed simultaneously.

Purpose: Confirmation of Clinical Diagnosis

Test Requisition: Molecular Requisition

CPT Code: 81401 Cost: $400.00

Turn-around-time: 21 days

Specimen Requirements

Shipping Information

References

1. Coffee,B, Muralidharan K, Highsmith WE, Lapunzina P, and Warren ST.Genet.Med. 2006:8(10):628-634.

2. Weksberg R, Smith AC, Squire J, Sadowski P. Hum Mol Genet. 2003;12:R61.68.

 

 

 

 


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Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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