Obstetrics / Gynecology /PND
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Deletion/duplication analysis on COL1A2 gene
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Detection by FISH of Cri-du-chat syndrome
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Detection by FISH of Down Syndrome
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Detection by FISH of frequent aneuploidies (chrs 13, 18, 21, X and Y)
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Detection by FISH of marker chromosome (centromeric probes 14/22,15)
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Detection by FISH of Miller-Dieker syndrome
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Detection by FISH of Phelan-McDermid syndrome
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Detection by FISH of Prader-Willi/Angelman syndromes (15q11.2)
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Detection by FISH of sexual chromosomes (X/SRY)
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Detection by FISH of sexual chromosomes (X/Y, centromeric)
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Detection by FISH of Smith-Magenis syndrome
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Detection by FISH of Williams syndrome
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Detection by FISH of Wolf-Hirschhorn syndrome
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Detection of frequent aneuploidies (QF-PCR)
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Diseases of sexual development (WES based NGS panel of 46 genes)
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