Congenital contractural arachnodactyly (FBN2)

06 Oct 15

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Apert syndrome (FGFR2, FGFR3)

06 Oct 15

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Angelman/Angelman-like syndrome panel

06 Oct 15

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Angelman-like syndrome/Christianson type (SLC9A6)

06 Oct 15

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Angelman syndrome (UBE3A)

06 Oct 15

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Thoracic aortic aneurysms/dissections (ACTA2, FBN1, MYH11, MYLK, NTM, PRKG1, SMAD3, TGFβ2, TGFβR1, TGFβR2)

06 Oct 15

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Intracranial aneurysm (NTM, TGFBR3)

06 Oct 15

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Fanconi anemia Group C (FANCC)

06 Oct 15

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Sickle cell anemia (HBB)

06 Oct 15

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Chromosome analysis for leukemya (different genes and rearrangements)

06 Oct 15

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La mutación G202A, en hijo hemicigoto (arriba) y madre heterocigota (abajo). Esta mutación acompañada de la mutación A376G ó T968C definen la variante africana negativa.

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Arriba se muestra el resultado de un niño hemicigoto para la variante africana negativa, caracterizada por las mutaciones A376G y G202A, y abajo de una niña heterocigota para la variante Mediterránea, definida por la mutación C563T.

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The G202A mutation, in the hemizygous son (above) and heterozygous mother (below). This
mutation accompanied with the A376G mutation or T968C define the african negative variant.

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Above the result of a hemizygous child with the african negative variant , characterized by
mutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation

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