Charcot-Marie-Tooth disease, Type 1A/HNPP (PMP22)

06 Oct 15

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Celiac disease (HLA-DQA1*05, HLA-DQB1*02, HLA-DQB1*03:02)

06 Oct 15

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Hypertrophic cardiomyopathy (20 gene panel)

06 Oct 15

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Cardiomyopathy (65 gene panel)

06 Oct 15

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Cardiofaciocutaneous syndrome (BRAF, MAP2K1, MAP2K2, KRAS)

06 Oct 15

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Breast cancer (BRCA1 y BRCA2-sequencing)

06 Oct 15

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Breast cancer (BRCA1 – 5382insC, del185AG)

06 Oct 15

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Canavan disease (ASPA)

06 Oct 15

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CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (NOTCH3)

06 Oct 15

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C9ORF72- related neurodegenerative disease

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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