Spastic paraplegia 2 (PLP1)

06 Oct 15

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Paraganglioma-Pheocromocytoma syndrome (SDHB, SDHC, SDHD)

06 Oct 15

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Viral panel-PCR (CMV, Herpes, Rubeola, Toxoplasma, EBV)

06 Oct 15

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Entherpex viral panel

06 Oct 15

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Lysosomal storage disease: panel enzyme activity (13 enzymes)

06 Oct 15

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Candida panel (C. albicans, C.glabrata, C. parapsilosis. C. krusei, C. tropicalis, C. guilliermondii, C. dubliniensis)

06 Oct 15

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Mitochondrial common mutations panel (9)

06 Oct 15

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Ashkenazi Jewish panel (11 genes)

06 Oct 15

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Osteogenesis imperfecta type I, II, III y IV (COL1A1, COL1A2)

06 Oct 15

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Aneurysm osteoarthritis syndrome (SMAD3)

06 Oct 15

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Spastic paraplegia 2 (PLP1)

Paraganglioma-Pheocromocytoma syndrome (SDHB, SDHC, SDHD)

Viral panel-PCR (CMV, Herpes, Rubeola, Toxoplasma, EBV)

Entherpex viral panel

Lysosomal storage disease: panel enzyme activity (13 enzymes)

Candida panel (C. albicans, C.glabrata, C. parapsilosis. C. krusei, C. tropicalis, C. guilliermondii, C. dubliniensis)

Mitochondrial common mutations panel (9)

Ashkenazi Jewish panel (11 genes)

Osteogenesis imperfecta type I, II, III y IV (COL1A1, COL1A2)

Aneurysm osteoarthritis syndrome (SMAD3)

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