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
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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DNA from affected tissue is more likely to detect a mutation than DNA from lymphocytes
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
GNAS (McCune Albright Syndrome)
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