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Genetics

 

Genetic testing guidance from M-CM Network Website 

Genetic testing for CLOVES Syndrome/PROS is more complicated than traditional genetic testing.  Many heathcare providers are still unfamiliar with it.  

 

Visual of the common genetic mutations for Vascular Anomalies and Vascular Anomaly Syndromes - Arin Greene et al 2018.

 

Visual created by the National Institutes of Health to help explain PIK3ca mutations and overgrowth. [March 20, 2017] 

 

July 2014 --- Clinical Genetic Test available via Washington University  
This test must be ordered by a geneticist/physician. This is somatic variant analysis by next-generation sequencing for Segmental Overgrowth, McCune Albright (SOMA) and related syndromes. The test includes concise, expert interpretations by board-certified clinical genomicists and is covered by most insurance.

https://gps.wustl.edu/wp-content/uploads/2015/11/SOMA_info_sheet_UTD.pdf

 

NIH Ongoing Research for PIK3ca mutations:

The National Institutes of Health does research testing of patients with all kinds of overgrowth.

If you'd like to learn more, contact Anna Buser at anna.buser@nih.gov  or by phone at 301-435-6689.

More information here https://www.ncbi.nlm.nih.gov/gtr/tests/5534/

 

CLOVES Genetic Mutation Discovery (5/31/12)

Researchers at Boston Children's Hospital identify a genetic cause for CLOVES

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