McCune Albright Syndrome


Description

McCune Albright Syndrome is caused by activating mutations in the GNAS1 gene. Two sites of mutation have been identified so far (p.Arg201 and p.Gln227) and mutations at these sites exist as mosaics: true dominant mutations are assumed to be lethal.

Also known as

MAS, Albright Syndrome


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

DNA from affected tissue is more likely to detect a mutation than DNA from lymphocytes Download additional information >


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

20 days


Disease / group

GNAS (McCune Albright 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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