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Oxford University Hospitals NHS Foundation Trust

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Solid tissue sample information

Indications

  • Possible syndrome
  • Indeterminate gender / ambiguous genitalia
  • Dysmorphism
  • Multiple congenital abnormalities
  • Possible chromosomal mosaicism

Investigations

  • Whole genome screening by karyotyping or Array CGH
  • Mosaicism screening
  • Confirmatory test for aneuploidy 13, 18 or 21 by QF-PCR
  • Cell culture for internal or sendaway molecular genetic or biochemical test

Sample type: Placenta or other tissue for fetal death investigations, skin biopsy for postnatal investigation of mosaicism.

Turnaround time

Turnaround times for testing have been specified by NHS England

However please note that tissue karyotyping requires long term cell culture before analysis and therefore turnaround time is affected by small sample size and cell compromise such as undue heat or transport delays.

Service Agreement

By sending a sample, accompanied by a completed laboratory referral form, the user enters into an agreement for the Genetics Laboratory to provide the service or test requested and agrees to the terms and conditions.

Last updated: 31-Oct-2019 by Claire Scott

DEPARTMENTS AND SERVICES