Silver-Russell Syndrome


Description

SRS is a genetically heterogeneous disorder. Up to 50% of cases are due tabnormal methylation of chromosome 11p15, particularly decreased methylatioat the H19DMR imprinting control centre (ICR1). Approximately 5-10% oindividuals with SRS will have maternal uniparental disomy of chromosome 7.

Also known as

Russell-Silver Syndome, SRS, RSS


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test. Download the referral form >


Additional information

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Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

5mls EDTA Blood


Reference range

Not applicable


Turnaround time

20 days


Disease / group

11p15.5 (Silver-Russell Syndrome)


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis


Genetics

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services...

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