Showing results for: upośledzenie umysłowe   Total: 9

  1. Fraser syndrome

    Analysis of the most common mutation in exon 6 of the FREM2 gene

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  2. Coffin-Lowry syndrome (CLS)

    Sequencing of the entire coding region of the RSK2 gene

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  3. Smith-Lemli-Opitz Syndrome

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  4. Smith-Lemli-Opitz Syndrome

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  5. Cohen Syndrome

    Sequencing analysis of exon 23 of COH1 gene (common mutation)

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  6. Rett syndrome (analysis of coding sequence MECP2 gene)

    Sequencing analysis of coding sequence MECP2 gene allows for detection of 70-80% mutations.

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  7. Microdeletion (the most common arrangements of chromosome microdeletion) MLPA test

    Identified microdeletion/microduplication syndromes (all in single analysis): 1p36, 2p16, 3q…

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  8. FraX Syndrome

    Amplification of the repetitive region of CGG within the male or female patients (molecular …

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  9. Angelman Syndrome

    Analysis of the methylation pattern of SNRPN locus. MS-PCR method allows for detection of no…

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