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Rare genetic syndromes

Rare genetic syndromes: there are literally hundreds of known genetic syndromes, some of which have been described from just a few individuals. Screening tests are available for those syndromes where a gene or group of genes have been identified as the most likely pathological cause of the syndrome. Please contact the laboratory to discuss the possibility of prenatal screening, as we have to assess these syndromes on a case-by-case basis.

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