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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 what mutations to test for and what samples are needed.

 

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 [email protected]  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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