GTR Test Accession:
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GTR000528964.1
Registered in GTR:
2015-12-10
View version history
GTR000528964.1,
registered in GTR:
2015-12-10
Last annual review date for the lab: 2024-08-14
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At a Glance
Conditions (1):
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CLOVES syndrome
Genes (1):
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PIK3CA (3q26.32)
Study description:
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Screen for somatic and mosaic mutations in CLOVES patients
Recruitment status:
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Currently open
Not provided
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose:
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Contribute to generalizable knowledge
Description:
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Screen for somatic and mosaic mutations in CLOVES patients
View citations (1)
- Ballieux F, Modarressi A, Hammer F, Clapuyt P, Docquier PL, Godfraind C, Feyaerts A, Brouillard P, Vikkula M, Boon LM. Reconstructive surgery in the management of a patient with CLOVES syndrome. J Plast Reconstr Aesthet Surg. 2013;66(12):1813-5. doi:10.1016/j.bjps.2013.06.045. Epub 2013 Jul 16. PMID: 23867238.
Offered by:
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Laboratory of Human Molecular Genetics
Person responsible for the study:
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Miikka Vikkula, PhD, MD, Lab Director
Study contact:
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Miikka Vikkula, PhD, MD, Lab Director
Recommended fields not provided:
Protocol number
Participation
Recruitment status:
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Currently open
Consent form:
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Not provided
Recommended fields not provided:
Eligibility criteria
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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