Newborn screening panel more screening for lysosomal storage disorders (LSD)

06 Oct 15

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Newborn screening panel (50 diseases)

06 Oct 15

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Sutherland Haan syndrome (PQBP1)

06 Oct 15

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Streptococo group B PCR

06 Oct 15

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STI-panel BAC/VIRUS/PARA/FUNGI (Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma hominis, Mycoplasma genitalum, Ureoplasma urealyticum, Ureoplasma parvum, Trichomonas vaginalis, Treponema pallidum, Haemophilus ducreyi, Herpes virus tipos I y II

06 Oct 15

Comments Off on STI-panel BAC/VIRUS/PARA/FUNGI (Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma hominis, Mycoplasma genitalum, Ureoplasma urealyticum, Ureoplasma parvum, Trichomonas vaginalis, Treponema pallidum, Haemophilus ducreyi, Herpes virus tipos I y II

Stickler syndrome type I, II, III (COL2A1,COL11A1,COL11A2)

06 Oct 15

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SRY

06 Oct 15

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SPINK1-relacionada con pancreatitis hereditaria

06 Oct 15

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Sotos syndrome (NSD1)

06 Oct 15

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Deafness, mitochondrial (A1555G mutation)

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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