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Molecular diagnosis of Silver-Russell syndrome (H19, IGF2, GRB10, MEST genes)

  • Phone : 49 (0)89 3090 8860
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  • Fax : 49 (0)89 3090 8866
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Last update: April 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Uniparental disomy study
Microsatellite analysis
Uniparental disomy study
Array based techniques
Methylation analysis
MLPA based techniques
Methylation analysis
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)

Additional information

Quality management


EQA scheme(s) organized by EMQN

SRS Silver-Russell syndrome (Pilot)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.