Beckwith-Wiedemann Syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000502012.3
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2018-06-22
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Diagnosis
Beckwith-Wiedemann syndrome
Genes (1): Help
CDKN1C (11p15.4)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MGZ Medical Genetics Center
View lab's website
Test short name: Help
BWS
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:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 5
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Methylation analysis
Other
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:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Comments: Help
Methylation Analysis by High Resolution Melting Analysis (HRM) of bisulfite-treated DNA and by methylation-sensitive MLPA.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity >95%, specifity >95%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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