Fragile X syndrome


Description

Fragile X syndrome is an X-linked mental retardation syndrome. The majority of fragile X cases are caused by expansion of the (CGG)n repeat in the promoter region of the FMR1 gene on chromosome Xq27.3

Also known as

FRAX


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

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

10 days pre screen, 20 days Amplidex testing


Disease / group

FMR1


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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