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GTR Home > Tests > Proteus Syndrome and PIK3CA-related Overgrowth Spectrum (PROS)


Test name


Proteus Syndrome and PIK3CA-related Overgrowth Spectrum (PROS) (Mosaic Overgrowth)

Purpose of the test


Contribute to generalizable knowledge



Click Condition tab for more information.


Molecular Genetics
ESequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq
TTargeted variant analysis
  • ABI SeqStudio

Summary of what is tested

Click Methodology tab for more information.

Description of study


This research study seeks to understand the natural history, genetic etiology, and possible therapeutic approaches in the management of Proteus syndrome, PIK3CA-related overgrowth spectrum disorders (PROS, CLOVES, HHML), and other overgrowth syndromes with overlapping characteristics. The following materials are required for eligibility determination: 1) Photographs of the affected areas of the patient, 2) A clinic note describing the patient's features and how they have changed over time, 3) Plain x-rays of the affected areas Research modalities differ by phenotype and are determined on a case-by-case basis. Potential participants may be referred to local providers for consideration of clinical testing as part of their eligibility assessment. Eligible participants' samples may be tested for the mutations in AKT1, PIK3CA and/or other candidate genes involved in overgrowth. Participants in this study may be eligible for additional therapeutic studies.


Person responsible for the studyHelpLeslie Biesecker, MD, Lab Director
Study contactHelpLeslie Biesecker, MD, Lab Director, leslieb@helix.nih.gov, 301-402-2041 (phone), 301-402-2170 (fax)
Co-investigatorHelpJulie Sapp, ScM, CGC, Genetic Counselor

Suggested reading

  • Lindhurst et al., 2011
    A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
  • Turner et al., 2004
    Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
  • Biesecker et al., 1998
    Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

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