This page provides information about non-NHS funded tests offered by the South West Genomic Medicine Service. These tests are typically requested by healthcare providers from outside the NHS, including international clients, devolved UK nations, and private healthcare providers. If you were looking for information about NHS-funded tests instead, please go back to Request a test to view NHS Tests.
SHORT Syndrome
SHORT syndrome is a rare autosomal dominant multisystem disease characterised by short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay.
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Specimen Source Identification
DNA-based specimen identity testing may be used for the identification of samples of uncertain origin, mixed-up specimens and “floaters” in paraffin blocks. DNA-based specimen identity testing is performed using the PowerPlex 16 System (Promega).
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