Skeletal dysplasias

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Achondroplasia. Detection of the c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg) mutations in the FGFR3 gene [1 gene]

Ref.: S-202313227

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Craniosynostosis [227 genes]

Ref.: S-202211856

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Hereditary multiple osteochondromas [3 genes]

Ref.: S-202314149

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Léri-Weill dyschondrosteosis. Analysis of the SHOX gene by MLPA [1 gene]

Ref.: S-202110052

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Microcephalic dwarfism. RNU4ATAC gene sequencing [1 gene]

Ref.: S-202211194

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Osteogenesis imperfecta [22 genes]

Ref.: S-202110094

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Skeletal dysplasias [624 genes]

Ref.: S-202110071

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Stickler syndrome and differential diagnosis [22 genes]

Ref.: S-202314163