BWS/RSS Molecular Analysis
GTR Test Accession: Help GTR000593347.1
CAP
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Registered in GTR: 2021-06-09
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Beckwith-Wiedemann syndrome; Silver-Russell syndrome 1
Molecular Genetics - Methylation analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Individuals with clinical features of Beckwith-Wiedemann Syndrome or Russell-Silver syndrome
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
BWRS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Huong Cabral, MS, Certified Genetic counselor, CGC, Genetic Counselor
GCMolgen@mayo.edu
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/Specimen/35376
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: BWRS
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with clinical features of Beckwith-Wiedemann Syndrome or Russell-Silver syndrome
View citations (5)
  • DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet. 2002;70(3):604-11. doi:10.1086/338934. Epub 2002 Jan 28. PMID: 11813134.
  • Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, Riccio A. MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet. 2008;16(5):565-71. doi:10.1038/sj.ejhg.5202001. Epub 2008 Jan 23. PMID: 18212817.
  • Eggermann T, Begemann M, Binder G, Spengler S. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis. 2010;5:19. doi:10.1186/1750-1172-5-19. Epub 2010 Jun 23. PMID: 20573229.
  • Beckwith-Wiedemann syndrome. Choufani S, et al. Am J Med Genet C Semin Med Genet. 2010;154C(3):343-54. doi:10.1002/ajmg.c.30267. PMID: 20803657.
  • Wakeling EL. Silver-Russell syndrome. Arch Dis Child. 2011;96(12):1156-61. doi:10.1136/adc.2010.190165. Epub 2011 Feb 24. PMID: 21349887.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity, and accuracy are ≥ 96%.
Assay limitations: Help
In addition to disease-related probes, the multiple ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
College of American Pathologists, CAP
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel alterations and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.