Directory of tests

For more information on prices, please contact the West Midlands Regional Genetics Laboratory:

For referral information, please see the West Midlands Regional Genetics Laboratory page.

Back to the list

Beckwith Wiedemann syndrome (BWS)

Beckwith Wiedemann syndrome (BWS)

TESTING STRATEGY

MS-MLPA to detect loss of maternal methylation of the KvDMR1 locus and hypermethylation of the H19DMR locus. Deletions and duplications of the 11p15.5 region are also detected by this analysis.

Detection of mosaic, segmental paternal isodisomy using semi-quantitative microsatellite marker analysis. Parental samples are required.

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA or DNA from the proband and both parents.
  • 2 weeks

FURTHER INFORMATION / LINKS