McCune Albright Syndrome


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.

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

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

20 days

Disease / group

GNAS (McCune Albright Syndrome)


Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


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

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