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

06 Oct 15

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Celiac disease (HLA-DQA105, HLA-DQB102, 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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Charcot-Marie-Tooth disease, Type 1A/HNPP (PMP22)

Celiac disease (HLA-DQA105, HLA-DQB102, HLA-DQB1*03:02)

Hypertrophic cardiomyopathy (20 gene panel)

Cardiomyopathy (65 gene panel)

Cardiofaciocutaneous syndrome (BRAF, MAP2K1, MAP2K2, KRAS)

Breast cancer (BRCA1 y BRCA2-sequencing)

Breast cancer (BRCA1 – 5382insC, del185AG)

Canavan disease (ASPA)

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

C9ORF72- related neurodegenerative disease

Breaking News

Galeria

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.

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.

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.

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

Breaking News

Galeria

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.

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.

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

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

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.

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