Beckwith-Wiedemann Syndrome (methylation test)
GTR Test Accession: Help GTR000500476.4
DYSMORPHOLOGYINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2015-07-24
Last annual review date for the lab: 2024-04-16 LinkOut
At a Glance
Diagnosis; Prognostic; Recurrence; ...
Beckwith-Wiedemann syndrome; Hemihypertrophy
Genes (2): Help
H19 (11p15.5), KCNQ1OT1 (11p15.5)
Molecular Genetics - Methylation analysis: High-Resolution Melting Analysis (HRMA)
For patients suspected to this particular disease, methylation analysis is …
Aberrant methylation levels are found in 82% of patients. Patients …
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Amsterdam UMC Genome Diagnostics
View lab's website
View lab's test page
Test short name: Help
BWS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Using our website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Simultaneous analysis of imprinting centre 1 (upstream of the H19 promoter) and imprinting centre 2 (overlapping the KCNQ1OT1 promoter)
View citations (1)
  • Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet. 2009;17(4):467-73. doi:10.1038/ejhg.2008.197. Epub 2008 Oct 15. PMID: 18854861.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Methylation analysis
High-Resolution Melting Analysis (HRMA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Prognostic; Recurrence; Risk Assessment; Screening
Clinical validity: Help
Aberrant methylation levels are found in 82% of patients. Patients with an aberrant methylation of H19 have an increased tumour risk.
View citations (1)
  • Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet. 2009;17(4):467-73. doi:10.1038/ejhg.2008.197. Epub 2008 Oct 15. PMID: 18854861.
Clinical utility: Help
Predictive risk information for patient and/or family members
View citations (1)
  • Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Bliek J, et al. Hum Mol Genet. 2001;10(5):467-76. doi:10.1093/hmg/10.5.467. PMID: 11181570.

Target population: Help
For patients suspected to this particular disease, methylation analysis is recommended as the first step in disease confirmation.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not Applicable

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Methylation status of H19 and KCNQ1-overlapping transcript 1 (KCNQ1OT1) is determined on a Idaho Lightscanner.
View citations (1)
  • Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Bliek J, et al. Hum Mol Genet. 2001;10(5):467-76. doi:10.1093/hmg/10.5.467. PMID: 11181570.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This method gives 100% concordance as compared with Southern Blotting. It is at least as sensitive as Southern Blotting in detecting mosaic aberrant methylation.
View citations (1)
  • Alders M, Bliek J, vd Lip K, vd Bogaard R, Mannens M. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. Eur J Hum Genet. 2009;17(4):467-73. doi:10.1038/ejhg.2008.197. Epub 2008 Oct 15. PMID: 18854861.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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