Showing results for: opóźnienie rozwoju   Total: 12

  1. Coffin-Lowry syndrome (CLS)

    Sequencing of the entire coding region of the RSK2 gene

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  2. Mental retardation (ARX gene – duplication analysis)

    Testing of the most common mutation in the ARX gene (dup24)

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  3. Mental retardation (ARX gene - entire)

    Sequencing of the entire coding region of the ARX gene.

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  4. Smith-Lemli-Opitz Syndrome

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  5. Smith-Lemli-Opitz Syndrome

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  6. Cohen Syndrome

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

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  7. 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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  8. Telomery (badanie regionów subtelomerowych) test MLPA

    Quantitative analysis (detection of duplications-deletions) of the subtelomere regions for e…

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  9. 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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  10. Prader-Willi Syndrome

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

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