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Test for Beckwith-Wiedemann Syndrome
Clinical Genetic Test
Help
offered by
Genome Diagnostics Laboratory
GTR Test Accession: Help GTR000271826.2
CAP
CANCERINHERITED DISEASE SUSCEPTIBILITYINHERITED DISEASE ... View more
Last updated in GTR: 2012-09-27
View version history
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Beckwith-Wiedemann syndrome
Genes (3): Help
CDKN1C (11p15.4); H19 (11p15.5); KCNQ1OT1 (11p15.5)
Methods (4): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genome Diagnostics Laboratory
View lab's website
Specimen Source: Help
  • Amniocytes
  • Buccal swab
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Health Care Provider
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.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Uniparental disomy study (UPD)
Other
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Novel variations in the CDKN1C gene are evaluated using a variety of algorithms including splice site analysis, sequence conservation within species and isoforms and functional estimation (i.e. SIFT, Polyphen, AlignGVGD & Mutation Taster). If the variation cannot be placed into a pathogenic or non-pathogenic state, further studies including evaluation of … View more

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Sequence analysis for CDKNIC
Methylation analysis using MS-MLPA for KvDMR and H19DMR
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
PCR-based sequencing detects 99% of the reported mutations in the CDKN1C gene. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions, insertions and indels in the region analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
SIFT, POLYPHEN2, Align GVGD, Mutation Taster, Splicing Programs

Laboratory's policy on reporting novel variations Help
They are reported as such
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.