What is the role of lab studies in the workup of Silver-Russell syndrome (SRS)?

Updated: Feb 11, 2019
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

An NH-CSS–based diagnostic flow chart published in a 2017 international consensus statement on the diagnosis and management of Silver-Russell syndrome recommended 11p15 loss of methylation (LOM) and UPD(7)mat as the initial molecular studies in likely Silver-Russell syndrome. If these are negative, additional diagnostic testing may be required, including copy number variant (CNV) and/or chromosome 14q32 analysis, with subsequent UPD(14)mat, UPD(16)mat, UPD(20)mat, and CDKN1C or IGF2 mutation analysis. [14]


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