McCune-Albright syndrome. GNAS gene sequencing. NextGeneDx [1 gene]

McCune-Albright syndrome is characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait spots on the skin, and peripheral precocious puberty. It is caused by gain-of-function genetic variants in the GNAS gene. They are present in mosaic since a mutation occurs in the first stages of embryonic development, affecting different tissues but not the entire organism. This is because recurrent mutations are considered lethal during embryonic life when they affect the whole organism.

Estimated at 1 / 100,000 – 1 / 1,000,000.

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McCune-Albright syndrome. GNAS gene sequencing. NextGeneDx

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202314051

McCune-Albright syndrome. GNAS gene sequencing. NextGeneDx: View panel
  • GNAS

Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
McCune-Albright syndrome. GNAS gene sequencing. NextGeneDx [1 genes]

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