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1
Q

What type of test is done with the DNA sample from CVS or Amniocentesis?

A

Type of test done depends on the genetic disorder that they are looking for. The timing of the test also depends on the genetic disorder.

Karyotype - done if there is a chromosomal abnormality in the family. E.g. if the parents are carriers of a balanced translocation. Results in 2 weeks (dependent upon the cells growing)

QF-PCR (Quantitative Fluorescence PCR) - samples to Guy’s Hospital laboratory and looks for t13, 18 & 21 (plus sex chromosomes if disorder suspected). Results: 24-48 hours

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